Alphabetic Listing of Presenting Authors: S


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Poster Authors: The letters W, T, or F indicate the day (i.e., Wednesday, Thursday, or Friday) on which authors present their work. Posters remain on the boards for all three days. Please remember to review the poster presentation guidelines before you prepare your poster.

Platform/Plenary Authors: Please remember to review the speaker presentation guidelines before you prepare your slides.

Reviewers' Choice Abstracts: The top 10% of poster abstracts, by topic as determined by the reviewers' scores, will receive a Reviewer's Choice ribbon. Look for the symbol next to poster listings and keep an eye out for ribbons on these high-scoring posters as you make your way through the poster hall.


PRESENTER'S NAME Partial
Abstract Title
Session Assignment Program# Session Dates
&
Locations
Presentation Time
Saadi, Irfan Identification of SPECC1L mutations in ... POSTER
Developmental Genetics and Gene Function
2224W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sabater-Lleal, Maria Meta-analysis of genome-wide association ... POSTER
Cardiovascular Phenotypes
688W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sabbadini, Marta Personalized genomics clinics: A model for ... POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
3061W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sabourin, Jeremy A. The effect of varying selection criteria ... POSTER
Statistical Genetics and Genetic Epidemiology
516F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sabunciyan, Sarven Widespread splicing of repetitive elements ... POSTER
Genome Structure and Function
3375F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sacca, Rosalba Association of airway abnormalities with ... POSTER
Mendelian Phenotypes
2311W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sadikovic, Bekim Genome-wide DNA methylation testing in ... POSTER
Epigenetics and Gene Regulation
2077W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Safarova, Maya S. Targeted sequencing of genes related to ... POSTER
Cardiovascular Phenotypes
618F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Safavi, Ali Reduction in pipette tip consumable cost ... POSTER
Molecular and Cytogenetic Diagnostics
1019T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Safka Brozkova, Dana HMSN type Lom (CMT4D) in a non-Roma Czech ... POSTER
Molecular and Cytogenetic Diagnostics
855F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sage, Adam Deregulation of long non-coding RNAs in ... POSTER
Cancer Genetics
2963T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Saha Mandal, Arnab Variant-level information is critical for ... POSTER
Bioinformatics and Computational Approaches
1715T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sahoo, Trilochan Diagnostic utility of chromosomal ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
3252F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sahota, Amrik S. Validation of a droplet PCR-based targeted ... POSTER
Molecular and Cytogenetic Diagnostics
782T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sajoo, Anaar Risk assessment and counselling training ... POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
3034W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Salaka, Afnan Investigation of gene dosage sensitivity ... POSTER
Complex Traits and Polygenic Disorders
1508T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Salani, Monica Development of a screening platform to ... POSTER
Developmental Genetics and Gene Function
2178F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
SALAS-LABADÍA, CONSUELO Delineation of genetic alterations in ... POSTER
Molecular and Cytogenetic Diagnostics
830T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Salazar-Dávalos, Ingrid M. A case report of Bardet-Biedl Syndrome. POSTER
Mendelian Phenotypes
2571F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Salerno, William J. Scalable map-free typing of clinical and ... POSTER
Bioinformatics and Computational Approaches
1688T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Salie, Muneeb Genetic contributions to the MHC and LRC ... POSTER
Evolution and Population Genetics
1045W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Salimi, Shabnam Multiple independent variants at the ... POSTER
Cardiovascular Phenotypes
677T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sallah, Neneh Novel genome-wide sequence variants ... PLATFORM
Session #71. Mapping Complex Traits in Ethnically Diverse Cohorts
247 Saturday, October 22
Ballroom A, West Building
9:00 am
Sallevelt, Suzanne C.E.H. A comprehensive strategy for exome-based ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
3288F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sallis, Hannah M. Investigating the inflammatory hypothesis ... POSTER
Statistical Genetics and Genetic Epidemiology
424W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Salmon, Asher Y. Development of functional assays for ... POSTER
Cancer Genetics
2810T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Samango-Sprouse, Carole Neurodevelopmental indications of ... POSTER
Complex Traits and Polygenic Disorders
1643T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Samocha, Kaitlin E. Regional analysis of variation tolerance ... PLATFORM
Session #32. Utilizing Constraint and Conservation for Functional Predictions
102 Thursday, October 20
Room 211, West Building
9:45 am
Sampath, Srirangan Autozygosity mapping using SNP based ... POSTER
Molecular and Cytogenetic Diagnostics
999F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sanchez, Ana I. Coffin-Lowry syndrome: Identification of a ... POSTER
Mendelian Phenotypes
2487F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sanchez-Navarro, Iker Optimized exome sequencing to characterize ... POSTER
Mendelian Phenotypes
2593W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sanders, Alan R. Genome-wide association study of male ... POSTER
Complex Traits and Polygenic Disorders
1563F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sanders, Ashley D. Visualizing structural variation at the ... PLATFORM
Session #39. Digging Deep into Structural Variation
153 Thursday, October 20
Room 119, West Building
12:00 pm
Sanderson, Matthea Interactions between the Prader-Willi ... POSTER
Developmental Genetics and Gene Function
2196F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sandhu, Sukhinder K. Robust whole genome sequencing technology ... POSTER
Cancer Genetics
2927T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sandoval-Muñiz, Roberto J. Niemann-Pick disease type C1: A case with ... POSTER
Mendelian Phenotypes
2288T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sanghera, Dharambir K. Novel rare variants in GCKR affect ... POSTER
Complex Traits and Polygenic Disorders
1237W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sanjari, Elmira Evaluation of mtDNA alterations and BCL-2 ... POSTER
Cancer Genetics
2920W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sankhwar, Monica Polymorphism in the XPD gene affects the ... POSTER
Cancer Genetics
2811F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sanniti, Anna Defining the cell specific transcriptional ... POSTER
Epigenetics and Gene Regulation
1988T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Santana, Uriel Francisco Analysis of NF-kB activation compared to ... POSTER
Cancer Genetics
2983W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Santhanam, Ram Development of highly multiplexed ... POSTER
Molecular and Cytogenetic Diagnostics
776T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Santibanez Koref, Mauro F. Comparing total and allelic expression for ... POSTER
Statistical Genetics and Genetic Epidemiology
587T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Santorico, Stephanie A. Genetic risk prediction and subtyping for ... POSTER
Complex Traits and Polygenic Disorders
1301T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Santoro, Silvia Development of a protocol of RNA ... POSTER
Omics Technologies
3153F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Santos, Victor C.P. Identification of microdeletion at ... POSTER
Molecular and Cytogenetic Diagnostics
878T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sanyoura, May A case of non-autoimmune normal weight ... POSTER
Mendelian Phenotypes
2265F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sapolsky, Ronald Improvements in molecular inversion probe ... POSTER
Molecular and Cytogenetic Diagnostics
1008F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Saris, Jasper J. Supplemental CNV analysis in diagnostic ... POSTER
Molecular and Cytogenetic Diagnostics
944T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sarkar, Abhishek K. Contrasting regulatory architectures of ... POSTER
Statistical Genetics and Genetic Epidemiology
517W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sarnowski, Chloé Whole genome sequence analysis of brain ... POSTER
Statistical Genetics and Genetic Epidemiology
400W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sartori, Ambra Single-cell transcriptional profiling ... POSTER
Omics Technologies
3141F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sasani, Tom Nanopore sequencing reveals evolution of ... POSTER
Evolution and Population Genetics
1068F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sathirapongsasuti, Fah F. Leveraging PheWAS in fine-mapping complex ... POSTER
Bioinformatics and Computational Approaches
1719F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sato, Naoko Partial duplication of Desert hedgehog ( ... POSTER
Mendelian Phenotypes
2469F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Satterstrom, F. Kyle Identification of rare variants conferring ... POSTER
Complex Traits and Polygenic Disorders
1500F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Saunders, Carol Molecular mechanisms of pathogenicity: Why ... POSTER
Epigenetics and Gene Regulation
2031F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Saunders, Gary I. Normalizing genetic variation data from ... POSTER
Bioinformatics and Computational Approaches
1956F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sausville, Lindsay N. Genetic variation in the eicosanoid ... POSTER
Cancer Genetics
2781F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Savage, Sharon A. Genomic characterization of ... POSTER
Mendelian Phenotypes
2294T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Saw, Woei Yuh Singapore Integrative Omics Cohort: ... POSTER
Evolution and Population Genetics
1168W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sawai, Hiromi Genome-wide association study identified ... POSTER
Complex Traits and Polygenic Disorders
1321W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sawyer, Sarah D. Genetic ancestry affects the predictive ... POSTER
Cancer Genetics
2804T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Saydam, Faruk Haplotype analyses of CYP2C19*2 and ... POSTER
Cardiovascular Phenotypes
609F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sazonova, Olga V. The genetics of levodopa-induced ... POSTER
Complex Traits and Polygenic Disorders
1409T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Scafe, Charles R. Multi-center assessment of a ... POSTER
Molecular and Cytogenetic Diagnostics
783F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Scala, Iris The use of large neutral amino acids ... POSTER
Mendelian Phenotypes
2255T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Scarpitta, Rosa Breast cancer risk factors: Focusing on ... POSTER
Cancer Genetics
2732T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Scepanovic, Petar Human genetic determinants of the humoral ... POSTER
Complex Traits and Polygenic Disorders
1270W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Schacht, John Tetraploid-diploid mosaicism in a patient ... POSTER
Complex Traits and Polygenic Disorders
1552W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Schaefer, Arne S. Combined QTL mapping and RNA seq in a ... POSTER
Complex Traits and Polygenic Disorders
1271T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Schaffer, Ashleigh E. Biallelic mutations in the nuclear ... PLATFORM
Session #87. Diseases of the Nervous System
321 Saturday, October 22
Room 221, West Building
11:00 am
Schaschl, Helmut Evolution of hypertension: Understanding ... PLATFORM
Session #71. Mapping Complex Traits in Ethnically Diverse Cohorts
249 Saturday, October 22
Ballroom A, West Building
9:30 am
Scheet, Paul A. Landscape of somatic mutations in the ... POSTER
Cancer Genetics
2830W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Scheinfeldt, Laura B. Thousands of adaptive polymorphisms in ... POSTER
Evolution and Population Genetics
1108W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Schenkel, Laila Clinical NGS Pipeline outperforms a ... POSTER
Molecular and Cytogenetic Diagnostics
768F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Schiffmann, Raphael Migalastat improves gastrointestinal ... POSTER
Mendelian Phenotypes
2650W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Schilit, Samantha LP Finding genes for infertility: A balanced ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
3276F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Schimmenti, Lisa A. Pax2/Pax2a regulates Cyp1b1/cyp1b1 ... POSTER
Developmental Genetics and Gene Function
2223F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Schleit, Jennifer Deletion of the first exon of COL1A2 ... POSTER
Mendelian Phenotypes
2340F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Schmidt, Ellen Marie Combining patient electronic health ... POSTER
Statistical Genetics and Genetic Epidemiology
556W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Schmidt, Monika H.M. BLM DNA helicase protects against ... POSTER
Complex Traits and Polygenic Disorders
1412T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Schmouth, Jean-Francois Targeted high-throughput screening of ... POSTER
Complex Traits and Polygenic Disorders
1406T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Schneider, Valerie A. Navigating GRCh38 at NCBI. POSTER
Bioinformatics and Computational Approaches
1926F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Schoech, Armin P. Estimating the frequency dependence of SNP ... POSTER
Statistical Genetics and Genetic Epidemiology
518T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Schonman, Erica F. Do primary care physicians manage genome ... POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
3065T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Schormair, Barbara Diagnostic exome sequencing reveals ... POSTER
Mendelian Phenotypes
2426T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Schrader, Kasmintan A. Standardized multiplex genetic testing in ... POSTER
Molecular and Cytogenetic Diagnostics
769W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Schraut, Katharina E. Identification and characterisation of a ... PLATFORM
Session #12. Obesity: It's in Your Genes
45 Wednesday, October 19
Room 211, West Building
10:00 am
Schreiber, Edgar A rapid genotyping research assay for ... POSTER
Omics Technologies
3137T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Schrock, Evelin Enrichment based NGS is superior to ... POSTER
Cancer Genetics
2888T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Schuchman, Edward H. ASAH1 gene mutations cause acid ceramidase ... POSTER
Mendelian Phenotypes
2651T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Schultz, Lee-Anne C M De novo interstitial duplication ... POSTER
Molecular and Cytogenetic Diagnostics
935T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Schulze, Katharina V. Maternal diabetes results in aberrant ... POSTER
Epigenetics and Gene Regulation
1963W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Schumacher, Fredrick R. Prostate cancer meta-analysis from more ... PLATFORM
Session #48. Mapping Cancer Susceptibility Alleles
191 Friday, October 21
Ballroom A, West Building
9:30 am
Schuster, Jessica Targeted gene set enrichment of placental ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
3284T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Schwantes-An, Tae-Hwi GWAS of longitudinally collected brain MRI ... POSTER
Complex Traits and Polygenic Disorders
1501W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Schwartzentruber, Jeremy Fine mapping gene expression associations ... POSTER
Epigenetics and Gene Regulation
2153T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Schwarzmayr, Thomas Exome sequencing of 311 trios confirms the ... POSTER
Developmental Genetics and Gene Function
2213T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Schweiger, Regev Canonical correlation analysis separates ... POSTER
Statistical Genetics and Genetic Epidemiology
455T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Scott, Alexandra J. The impact of genome structural variation ... PLATFORM
Session #41. Interpreting the Transcriptome in Health and Disease
169 Thursday, October 20
Room 211, West Building
12:00 pm
Scott, Anna I. Aicardi-Goutières syndrome and the ADAR1 ... POSTER
Mendelian Phenotypes
2477T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Scott, Daryl A. Loss-of-function mutations in NONO can ... POSTER
Cardiovascular Phenotypes
611T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Scott, Erika N. Multiple system atrophy: Are epigenetics ... POSTER
Epigenetics and Gene Regulation
2032W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Scott, Hamish S. Familial clustering of haematological ... POSTER
Cancer Genetics
2687T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Scott, Stuart A. Clinical significance of genetic variation ... POSTER
Complex Traits and Polygenic Disorders
1648W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sdano, Mallory R. Taking another look: Results of ... POSTER
Molecular and Cytogenetic Diagnostics
1029F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Seaby, Eleanor G. AMMECR1: A single point mutation causes ... POSTER
Mendelian Phenotypes
2617W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Seed, Cotton Hail: An open-source framework for ... POSTER
Bioinformatics and Computational Approaches
1865T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Segre, Ayellet V. Integrating eQTLs and tissue-specificity ... PLATFORM
Session #7. Insights from Large Cohorts: Part 1
14 Wednesday, October 19
Ballroom B, West Building
9:45 am
Seifi, Morteza Comparison of bioinformatic prediction ... POSTER
Mendelian Phenotypes
2547F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sekedat, Matthew Enhancing X-linked disease risk assessment ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
3292W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sellmer, Laura Non-optic gliomas in adults and children ... POSTER
Mendelian Phenotypes
2398W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sen, Merve Familial essential tremor candidate genes ... POSTER
Complex Traits and Polygenic Disorders
1377F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sénécal, Karine Genomic newborn screening: Public health ... POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
3069F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Seo, Aaron Homozygous BRCA1 truncation causes Fanconi ... PLATFORM
Session #84. Novel Discoveries in Mendelian Disease
307 Saturday, October 22
Room 119, West Building
11:15 am
Sergouniotis, Panagiotis I. In-frame indels in inherited eye disease ... POSTER
Mendelian Phenotypes
2551W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sethuraman, Anand Characterization of the poly-T variants in ... POSTER
Omics Technologies
3145W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Settas, Nikolaos Animal models support TNS1 gene ... POSTER
Cancer Genetics
2984T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Seyerle, Amanda Anne Effect of bias and misclassification on ... POSTER
Statistical Genetics and Genetic Epidemiology
467T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Shafee, Rebecca Schizophrenia polygenic burden is ... POSTER
Complex Traits and Polygenic Disorders
1502T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Shah, Kalpit Lemur Tyrosine Kinase-2, a potential novel ... POSTER
Cancer Genetics
2964F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Shah, Sohela Leveraging an advanced knowledge base of ... POSTER
Bioinformatics and Computational Approaches
1761F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Shahid, Saba Next generation sequencing for an ... POSTER
Genome Structure and Function
3314T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Shameer, Khader A multiscale survey of inflammatory ... POSTER
Cancer Genetics
2695W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Shan, Saira Frequency of additional cytogenetics ... POSTER
Molecular and Cytogenetic Diagnostics
760W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Shani, Hagit Chromosomal Assessment by Rapid LAMP ... POSTER
Molecular and Cytogenetic Diagnostics
1009W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sharafeldin, Noha Impact of SNP-SNP interactions on ... POSTER
Cancer Genetics
2696T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Shariati, Gholamreza Collaboration of different pathogenic ... POSTER
Molecular and Cytogenetic Diagnostics
912F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sharma, Aarti Genome wide copy number profiling detects ... POSTER
Cancer Genetics
2921T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sharma, Amar ch. Association between single nucleotide ... POSTER
Complex Traits and Polygenic Disorders
1339W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sharon, Eilon Genetic variation in MHC proteins is ... POSTER
Epigenetics and Gene Regulation
2112F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sharp, Kevin J. A new sparse Bayesian method for ... POSTER
Statistical Genetics and Genetic Epidemiology
524T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Shaw, Kelly The role of rare variants in a pediatric ... POSTER
Complex Traits and Polygenic Disorders
1272F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Shaw, Natalie The phenotypic spectrum of arhinia ... PLATFORM
Session #42. Craniofacial and Ocular Malformations
175 Thursday, October 20
Room 221, West Building
11:30 am
Shehab, Marwa I.K. Psychosocial, behavioural, cognitive and ... POSTER
Complex Traits and Polygenic Disorders
1553T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Shekar, Niranjan A reference-agnostic and rapidly queryable ... POSTER
Cardiovascular Phenotypes
695T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Shelton, Janie f. Genetic variation underlying self-reported ... POSTER
Statistical Genetics and Genetic Epidemiology
350T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Shen, Hui Whole-genome methylation analysis for ... POSTER
Epigenetics and Gene Regulation
2009T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Shen, Jinsong Mechanism of priapism in a mouse model of ... POSTER
Cardiovascular Phenotypes
610W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Shen, Xia Joint omics analysis connects human IgG N ... PLATFORM
Session #85. Genetic Variation in Common Immune Disease
311 Saturday, October 22
Room 207, West Building
11:00 am
Shen, Yaoqing Identification of causal genes for rare ... POSTER
Bioinformatics and Computational Approaches
1754T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Shen, Yufeng Predicting haploinsufficiency from ... PLATFORM
Session #76. The Phenotypic Implications of Gene Dosage and Regulation
268 Saturday, October 22
Room 207, West Building
9:15 am
Sherry, Stephen T. A standard allele registry for the human ... POSTER
Bioinformatics and Computational Approaches
1884F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sherva, Richard Genome-wide association study of the ... POSTER
Complex Traits and Polygenic Disorders
1461F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Shi, Huwenbo Local genetic correlation provides ... POSTER
Statistical Genetics and Genetic Epidemiology
475W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Shi, Min A family-based, genome-wide association ... POSTER
Cancer Genetics
2733F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Shi, Wenge Next generation sequencing (NGS) ... POSTER
Molecular and Cytogenetic Diagnostics
796W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Shi, Yunling Genotype data quality analysis at the next ... POSTER
Bioinformatics and Computational Approaches
1866F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Shieh, Joseph T. Identification of novel Ras superfamily ... POSTER
Omics Technologies
3150F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Shigemizu, Daichi Development of a long indel detection ... POSTER
Bioinformatics and Computational Approaches
1867W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Shimada, Aya Identification of novel compound ... POSTER
Mendelian Phenotypes
2341W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Shimada-Sugimoto, Mihoko Epigenome-wide association analysis of DNA ... POSTER
Epigenetics and Gene Regulation
2058F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Shimelis, Hermela High-throughput functional classification ... POSTER
Cancer Genetics
2922F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Shimizu, Atsushi Establishment of blood sample collection ... POSTER
Omics Technologies
3171F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Shin, Giwon Genome-wide sequencing of STRs illuminates ... POSTER
Omics Technologies
3184W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Shin, Sun Genetic progression of high grade ... POSTER
Cancer Genetics
2734W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Shinawi, Marwan SMAD2 mutations associated with DORV, ... POSTER
Mendelian Phenotypes
2624T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Shinde, Deepali N. De novo alterations in KLF7 are a novel ... POSTER
Mendelian Phenotypes
2387T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Shirvani-Farsani, Zeinab The effect of VDR knockdown on T Cell ... POSTER
Developmental Genetics and Gene Function
2245W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Shokoohi, Aria Creation and implementation of a BC ... POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
3014T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Shooshtari, Parisa Regulatory fine mapping resolves shared ... POSTER
Epigenetics and Gene Regulation
1981W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Shore, Sabrina Advances in small RNA NGS: Low input ... POSTER
Omics Technologies
3209T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Short, Patrick J. The contribution of de novo mutations in ... PLATFORM
Session #55. From Gene Discovery to Mechanism in Neurological Disease
234 Friday, October 21
Room 221, West Building
9:45 am
Shotelersuk, Vorasuk Mutations in MBTPS2 cause X-linked ... POSTER
Developmental Genetics and Gene Function
2173W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Shrine, Nick Genetic variants associated with lung ... PLATFORM
Session #38. Novel Findings from Genome-Wide Association Studies
147 Thursday, October 20
Room 109, West Building
12:30 pm
Shu, Chang Integrating expression quantitative brain ... POSTER
Complex Traits and Polygenic Disorders
1423W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Shu, Shi Whole-exome sequencing identifies a ... POSTER
Mendelian Phenotypes
2470W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Shuen, Andrew Mismatch repair activity in non-neoplastic ... PLATFORM
Session #37. Hereditary Cancer Diagnostics
136 Thursday, October 20
Ballroom C, West Building
11:45 am
Shukradas, Shweta Multi-omic data exploration using pathway ... POSTER
Bioinformatics and Computational Approaches
1868T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Shwan, Nzar A.A. Repeated expansion of human amylase genes ... POSTER
Evolution and Population Genetics
1111W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Siddiqui, Moneeza Kalhan Genetic factors predicting Lp-PLA2 activity ... POSTER
Cardiovascular Phenotypes
692T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sidransky, Ellen Examining the risk of Parkinsonism in six ... POSTER
Mendelian Phenotypes
2445F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sieberts, Solveig K. Large scale brain eQTL meta-analysis from ... POSTER
Statistical Genetics and Genetic Epidemiology
457W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Siewert, Katherine M. A novel, widely-applicable method for ... POSTER
Bioinformatics and Computational Approaches
1939W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sigsworth, Lauren M. Case report: Two likely pathogenic ... POSTER
Cardiovascular Phenotypes
613W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Silas, Justin Carlus Methylenetetrahydrofolatereductase C677T ... POSTER
Complex Traits and Polygenic Disorders
1564W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Silva, Danilo C. Impact of long contiguous stretches of ... POSTER
Molecular and Cytogenetic Diagnostics
875T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Silva, Fabiola T.C. Generating a Drosophila model of ... POSTER
Mendelian Phenotypes
2271F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
SILVEIRA-LACERDA, ELISANGELA P. Influence of CYPA4*1B, CYP3A5*3, GSTT1 and ... POSTER
Cancer Genetics
2985F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Silvestri, Valentina FANCM c.5791C>T mutation in Italian ... POSTER
Cancer Genetics
2735T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sim, Xueling A coding 27bp deletion in SLC4A1 is ... POSTER
Complex Traits and Polygenic Disorders
1188F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Simon, Jeremy M. Identification of chemicals that mimic ... POSTER
Epigenetics and Gene Regulation
2019F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Simons, Yuval B. Quantifying selection and demographic ... PLATFORM
Session #51. Inferring the Action of Natural Selection
210 Friday, October 21
Room 109, West Building
9:45 am
Simonti, Corinne N. Leveraging large-scale clinical biobanks ... POSTER
Evolution and Population Genetics
1075W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Simpson, Claire L. Linkage analysis of common myopia using ... POSTER
Statistical Genetics and Genetic Epidemiology
440T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Singer, Amihood The Israeli national genetic carrier ... POSTER
Mendelian Phenotypes
2640F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Singh, Arvind K. Association of toll-like receptor-3 gene ... POSTER
Evolution and Population Genetics
1112T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Singh, Gagandeep Genetic architecture of five endogamous ... POSTER
Evolution and Population Genetics
1099W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Singh, Mayanglambam Dhruba A Drosophila melanogaster model of 16p11.2 ... PLATFORM
Session #79. Diverse Model Systems for Teasing Out the Molecular Basis of Disease
280 Saturday, October 22
Room 302, West Building
9:15 am
Singh, Minati Global loss of BBS proteins is associated ... POSTER
Developmental Genetics and Gene Function
2246T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Singh, Nanda PMS2CL-hybrid alleles containing PMS2 ... PLATFORM
Session #37. Hereditary Cancer Diagnostics
137 Thursday, October 20
Ballroom C, West Building
12:00 pm
Singh, Preeti dbLoF: An online database of human ... POSTER
Bioinformatics and Computational Approaches
1910T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Singh, Ram A de novo terminal 4.5 Mb duplication of ... POSTER
Molecular and Cytogenetic Diagnostics
921F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Singh, Sanmeet Assessment of risk of developing ... POSTER
Mendelian Phenotypes
2307F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Singh, Tarjinder Schizophrenia patients have an increased ... POSTER
Complex Traits and Polygenic Disorders
1503F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Siu, Michelle T. Reducing epigenetic heterogeneity in ... POSTER
Epigenetics and Gene Regulation
2059W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sivakumar, Smruthy Patterns of somatic genomic variation in ... POSTER
Cancer Genetics
2852T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sivasankaran, Sathesh Kumar Aberrant DNA methylation of the non-coding ... POSTER
Epigenetics and Gene Regulation
2033T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sivley, Robert Michael Comprehensive analysis of the spatial ... POSTER
Bioinformatics and Computational Approaches
1869F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sjaarda, Calvin P. Exome sequencing of “pure” ... POSTER
Complex Traits and Polygenic Disorders
1424T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Skotte, Line A CPT1A missense mutation associated with ... PLATFORM
Session #71. Mapping Complex Traits in Ethnically Diverse Cohorts
248 Saturday, October 22
Ballroom A, West Building
9:15 am
Slavin, Thomas P. Fanconi anemia gene variants predispose to ... POSTER
Cancer Genetics
2782W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Slavney, Andrea Key differences and similarities between ... POSTER
Evolution and Population Genetics
1103T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Slavotinek, Anne M. Biallelic sequence variants in INTS1 in ... PLATFORM
Session #42. Craniofacial and Ocular Malformations
178 Thursday, October 20
Room 221, West Building
12:15 pm
Sleiman, Patrick M. Whole genome sequencing in a large ... POSTER
Evolution and Population Genetics
1069W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sloan-Heggen, Christina More efficient diagnosis of patients with ... POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
3027F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Slomp, Caitlin When to take a family history: Assessing ... POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
3120F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Small, Kent W. North Carolina Macular Dystrophy ... POSTER
Mendelian Phenotypes
2545W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Small, Kerrin Discovery of adipose-specific GxBMI ... PLATFORM
Session #83. Gene Regulation and Cardiovascular Disease
299 Saturday, October 22
Room 109, West Building
10:30 am
Smieszek, Sandra Autism redefined: Genomic pathway approach ... PLATFORM
Session #10. Advances in Characterizing the Genetic Basis of Autism
33 Wednesday, October 19
Room 119, West Building
10:00 am
Smith, Andrew J P Integration of allele-specific chromatin ... POSTER
Cardiovascular Phenotypes
713T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Smith, Caitlin J. Polymorphisms in CYP2C9 are associated ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
3230T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Smith, Chris S. A recurrent mutation in MYH14 causes ... POSTER
Mendelian Phenotypes
2452W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Smith, Cynthia L. "At-a-glance" human disease model and ... POSTER
Bioinformatics and Computational Approaches
1712T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Smith, Emily Use of exome sequencing in cases of sudden ... POSTER
Molecular and Cytogenetic Diagnostics
792F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Smith, Erin N. Genetic factors and non-genetic mechanisms ... POSTER
Epigenetics and Gene Regulation
2128W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Smith, Joel Estimating the timing of adaptation for a ... POSTER
Evolution and Population Genetics
1123W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Smith, Maureen Sharing genetic information with family: ... POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
3071T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Smith-Packard, Bethanny Engaging families in research by targeting ... POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
3076W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Snell, Russell G. Urea concentration is increased in the ... POSTER
Genome Structure and Function
3329T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Snyder, Michael P. Integrative personal omics profiling ... POSTER
Omics Technologies
3134T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Soave, David Missing genetic interactions result in ... POSTER
Statistical Genetics and Genetic Epidemiology
532W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sobota, Rafal S. Variation in locus 5q31.1 confers ... POSTER
Complex Traits and Polygenic Disorders
1607T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sobreira, Nara L M Novel analytic approaches used to solve ... PLATFORM
Session #73. Whole-exome and Whole-genome Sequencing: From Disease Gene Discovery to Diagnosis
257 Saturday, October 22
Ballroom C, West Building
9:30 am
Soens, Zachry T. Identifying Mendelian disease-causing ... PLATFORM
Session #6. Interpreting Variants of Uncertain Significance
7 Wednesday, October 19
Ballroom A, West Building
9:30 am
Sofer, Tamar BinomiRare: An efficient and robust test ... POSTER
Statistical Genetics and Genetic Epidemiology
540F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sohail, Mashaal Negative selection in modern human ... PLATFORM
Session #51. Inferring the Action of Natural Selection
212 Friday, October 21
Room 109, West Building
10:15 am
Soliai, Marcus M. Gene expression response to rhinovirus ... POSTER
Complex Traits and Polygenic Disorders
1620F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Solomon, Terry Identifying protein quantitative trait ... POSTER
Cardiovascular Phenotypes
670W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Song, Ci Causal inference of platelet reactivity on ... POSTER
Cardiovascular Phenotypes
678F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Song, Liting Comparison of algorithms for error ... POSTER
Bioinformatics and Computational Approaches
1798W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Song, Ran Population diversity in transcriptional ... POSTER
Evolution and Population Genetics
1041F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Song, Shiya Modeling human population separation ... POSTER
Evolution and Population Genetics
1089F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Song, Xiaofei Features of Alu/Alu mediated genomic ... POSTER
Genome Structure and Function
3380T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Song, Xiaofeng GFusion: A novel algorithm to identify ... POSTER
Cancer Genetics
2831T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Soria, Leandro R. Hyperammonemia induces hepatic autophagy ... POSTER
Mendelian Phenotypes
2524W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sorlin, Arthur Postzygotic KITLG mutation in a congenital ... POSTER
Mendelian Phenotypes
2376F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sorokin, Elena P. Assessing clinically relevant variation in ... POSTER
Cancer Genetics
2801T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sorosina, Melissa Identification and characterization of ... POSTER
Complex Traits and Polygenic Disorders
1365F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sosonkina, Nadiya Functional characterization of a point ... POSTER
Mendelian Phenotypes
2609T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Southey, Melissa C. Heritable epimutations associated with ... PLATFORM
Session #13. Functional Assessment of Cancer Susceptibility Regions
47 Wednesday, October 19
Room 221, West Building
9:00 am
Soveizi, Mahdieh The role of CYP21A2 gene in Premature ... POSTER
Genome Structure and Function
3307W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Spalding, John D. EGA: Towards distributed consented genetic ... POSTER
Bioinformatics and Computational Approaches
1870W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Spear, Melissa L. Admixture inference of African Americans ... POSTER
Evolution and Population Genetics
1079T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Speir, Matthew L. The UCSC Genome Browser: New display modes ... POSTER
Bioinformatics and Computational Approaches
1871T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Speliotes, Elizabeth K. Studies of the functional role of LYPLAL1 ... POSTER
Developmental Genetics and Gene Function
2160F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Spellicy, Catherin J. APAF1 and CASP9 implicated in recurrent ... POSTER
Molecular and Cytogenetic Diagnostics
983T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sperlea, Adriana Annotation of the human genome through ... PLATFORM
Session #32. Utilizing Constraint and Conservation for Functional Predictions
103 Thursday, October 20
Room 211, West Building
10:00 am
Sperry, Ethan D. SOX11 is necessary for development of the ... POSTER
Developmental Genetics and Gene Function
2234T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Spielmann, Malte The majority of pathogenic copy number ... PLATFORM
Session #76. The Phenotypic Implications of Gene Dosage and Regulation
269 Saturday, October 22
Room 207, West Building
9:30 am
Spierings, Diana C.J. Single-cell whole genome sequencing ... POSTER
Cancer Genetics
2926W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Spindola, Leticia MN Childhood maltreatment and major ... POSTER
Complex Traits and Polygenic Disorders
1509F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Spracklen, Cassandra N. Association analyses of up to 72,043 East ... POSTER
Statistical Genetics and Genetic Epidemiology
355W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Spurdle, Amanda B. ENIGMA quantitative and qualitative ... PLATFORM
Session #37. Hereditary Cancer Diagnostics
138 Thursday, October 20
Ballroom C, West Building
12:15 pm
Srinivasan, Maithreyan A flexible single-cell RNA-seq system for ... POSTER
Cancer Genetics
2880F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Srinivasan, Shylaja A novel ‘metabolic syndrome’ ... POSTER
Complex Traits and Polygenic Disorders
1200F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sriretnakumar, Venuja Investigating the prevalence of treatable ... POSTER
Complex Traits and Polygenic Disorders
1450W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Srivastava, Anand K. Metabolomic analysis leading to biomarkers ... POSTER
Complex Traits and Polygenic Disorders
1425F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Srivastava, Anuj De novo assembly and RNA-seq shows ... POSTER
Genome Structure and Function
3319W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Srivastava, Rajeshwar N. MMP-8 and TIMP-1 expression in pressure ... POSTER
Molecular and Cytogenetic Diagnostics
963F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Srivastava, Roshni LRP6 mutation causes coronary artery ... POSTER
Cardiovascular Phenotypes
720F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Stamoulis, Georgios Single cell allele specific expression ... POSTER
Genome Structure and Function
3338T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Standish, Kristopher A. HLA imputation from whole genome ... POSTER
Complex Traits and Polygenic Disorders
1300W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Stanford, Janet L. Epigenome-wide tumor DNA methylation ... POSTER
Cancer Genetics
2968W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Stanier, Philip M. Impact of SNX14 mutations on endocytic ... POSTER
Developmental Genetics and Gene Function
2181F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Stanley, Christine M. Are in silico pathogenicity tools reliable ... POSTER
Bioinformatics and Computational Approaches
1687W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Staples, Jeffrey Craig De-novo reconstruction of more than 6,000 ... PLATFORM
Session #36. Insights from Large Cohorts: Part 2
125 Thursday, October 20
Ballroom B, West Building
11:00 am
Starita, Lea Massively parallel functional analysis of ... POSTER
Cancer Genetics
2898F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Stein, Catherine M. Novel genetic variants in X-linked genes ... POSTER
Complex Traits and Polygenic Disorders
1451T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Stein, Michelle QTL mapping of cytokine responses to LPS ... POSTER
Complex Traits and Polygenic Disorders
1292T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Stergachis, Andrew B. Global analysis of transcription factor ... POSTER
Epigenetics and Gene Regulation
2133F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Stergiakouli, Evie Shared genetic effects between clinical ... POSTER
Statistical Genetics and Genetic Epidemiology
425T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Stevanin, Giovanni Exon analysis of 74 genes potentially ... POSTER
Molecular and Cytogenetic Diagnostics
856W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Stewart, Douglas Frequency of pathogenic germline mutations ... POSTER
Cancer Genetics
2676F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Stilp, Adrienne Associations between SLC16A11 variants and ... POSTER
Complex Traits and Polygenic Disorders
1201W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
stoll, claude Associated anomalies in cases with anotia ... POSTER
Statistical Genetics and Genetic Epidemiology
445W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Stolzenburg, Lindsay R. Long-range interactions organize the 11p13 ... POSTER
Epigenetics and Gene Regulation
2006T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Strattan, J S. The ENCODE analysis pipelines: Repeatable ... POSTER
Bioinformatics and Computational Approaches
1764F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Strong, Emma N. Genome-wide DNA methylation analysis of ... POSTER
Epigenetics and Gene Regulation
2078T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Stutterd, Chloe Recessive porphyria due to homozygous HMBS ... POSTER
Mendelian Phenotypes
2471T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Stuttgen, Kelsey M. Perspectives on genetic testing and return ... POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
3020T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Su, Bing Down-regulation of EPAS1 transcription ... POSTER
Evolution and Population Genetics
1076T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Su, CHI-TING Thrifty functional characteristics of the ... POSTER
Complex Traits and Polygenic Disorders
1183W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Su, Hua Integrated analysis of genome-wide miRNAs ... POSTER
Cancer Genetics
2965W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Su, Marcia Shu-Wei Dynamics of mitochondrial DNA heteroplasmy ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
3261F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
SU, SHIH-CHI Exome sequencing of oral squamous cell ... POSTER
Cancer Genetics
2736F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Subramaniam, Meena Leveraging the diploid genome to increase ... PLATFORM
Session #54. Novel Methods for Analyzing GWAS and Sequencing Data
230 Friday, October 21
Room 211, West Building
10:15 am
SUDHAKAR, DIGUMARTHI V S Novel autosomal genes linked with male ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
3265W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sudmant, Peter H. 3’ UTR fragments accumulate in aging ... POSTER
Epigenetics and Gene Regulation
2098W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sukenik Halevy, River Novel mutations in the fourth ... POSTER
Mendelian Phenotypes
2353W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sulakhe, Dinanath Lynx – An integrated bioinformatics ... POSTER
Bioinformatics and Computational Approaches
1716F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sulovari, Arvis Whole-genome screen for disease-associated ... POSTER
Evolution and Population Genetics
1124T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sumner, Kelli Retrospective comparison of traditional ... POSTER
Molecular and Cytogenetic Diagnostics
1003W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sun, Jianqiang Identification of differentially expressed ... POSTER
Bioinformatics and Computational Approaches
1809F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sun, Meng A T2D case-control study in Africans of ... POSTER
Statistical Genetics and Genetic Epidemiology
334W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sun, Ning Assessment and control of batch effects in ... POSTER
Statistical Genetics and Genetic Epidemiology
557T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sun, Ying Interaction of saposin C with GCase ... POSTER
Developmental Genetics and Gene Function
2159T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sun, Yongming Bioinformatics design and analysis ... POSTER
Cancer Genetics
2853F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sun, Zhifu Adipose tissue DNA methylome changes in ... POSTER
Epigenetics and Gene Regulation
1964T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sund, Kristen GRIN (Genomic Research and Innovation ... POSTER
Omics Technologies
3172W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sung, Heejong Replication of a single nucleotide ... POSTER
Complex Traits and Polygenic Disorders
1231W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Sung, Hyuna Association of high-evidence gastric ... POSTER
Cancer Genetics
2783T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Superti-Furga, Andrea SFRP4 ablation in Pyle disease reveals the ... PLATFORM
Session #11. New Discoveries in Skeletal Disorders and Syndromic Abnormalities
39 Wednesday, October 19
Room 207, West Building
10:00 am
Suphapeetiporn, Kanya Novel mutations including a large deletion ... POSTER
Molecular and Cytogenetic Diagnostics
920T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Surakka, Ida Imputation of low frequency and rare ... POSTER
Statistical Genetics and Genetic Epidemiology
544W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Suresh, Sangita Targeted sequencing using advanced ... POSTER
Omics Technologies
3173T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Suzuki, Akari Decreased severity of experimental ... POSTER
Complex Traits and Polygenic Disorders
1257F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Suzuki, Satoshi Replication study of GWAS candidate genes ... POSTER
Complex Traits and Polygenic Disorders
1548F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Suzuki, Toshifumi Molecular genetic analysis of 30 families ... POSTER
Molecular and Cytogenetic Diagnostics
968T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Svobodova, Iveta Differentially expressed miRNAs in ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
3257T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Swaminathan, Rajeswari A scalable and secure genome archiving and ... POSTER
Bioinformatics and Computational Approaches
1882W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sweet, Kevin Development of a practice model of genomic ... POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
3088W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Sweet, Mary Transcriptome analysis of human explanted ... POSTER
Cardiovascular Phenotypes
716T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Swift, Caren Nine-year follow-up in a patient receiving ... POSTER
Mendelian Phenotypes
2652F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Swisshelm, Karen L. Co-existence of a complex, three-way ... POSTER
Molecular and Cytogenetic Diagnostics
867F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Syed, Hamzah SurvivalGWAS_SV: Software for the analysis ... POSTER
Bioinformatics and Computational Approaches
1872F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Symoens, Sofie Validation of targeted next-generation ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
3239T Thursday, Oct. 20
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Syverson, Erin Insights into residents’ utilization ... POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
3102F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
3:00pm-4:00pm
Szatkiewicz, Jin Finding causal variants in the ... POSTER
Complex Traits and Polygenic Disorders
1453W Wednesday, Oct. 19
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm
Szybowska, Marta Expanded phenotypic spectrum of autosomal ... POSTER
Mendelian Phenotypes
2613F Friday, Oct. 21
Convention Centre, Exhibit Hall B, West Building
2:00pm-3:00pm