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.

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PRESENTER'S NAME Partial
Abstract Title
Session Assignment Program# Session Dates
&
Locations
Presentation Time
Saba, Allison Neurodevelopmental profile for boy with ... POSTER
Mendelian Phenotypes
1041F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Sabo, Aniko Structural variation influencing complex ... POSTER
Complex Traits and Polygenic Disorders
2228T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Sabourin, Jeremy A. Exploring the effect of minor allele ... POSTER
Statistical Genetics and Genetic Epidemiology
2890W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Sadikovic, Bekim Discovery of unique disease- and ... PLATFORM
Session #65. DNA Methylation
257 Friday, October 20
Room 220B, Level 2
10:15 am
Sadler, Brooke Epidemiology and genetics of Chiari 1 ... POSTER
Mendelian Phenotypes
1029F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Saeed, Sadia Novel mutations in ADCY3 cause severe, ... PLATFORM
Session #103. The Genetics of Obesity
358 Saturday, October 21
Room 320, Level 3
10:00 am
Saeidian, Amir Hossein Multigene next generation sequencing panel ... POSTER
Molecular and Cytogenetic Diagnostics
2451F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Saferali, Aabida Splice quantitative trait loci in human ... PLATFORM
Session #66. Splicing in Complex Traits
263 Friday, October 20
Room 220F, Level 2
10:45 am
Sage, Jay M. Application of electronic mapping to ... POSTER
Omics Technologies
1521F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Saha, Madhurima PYROXD1 is responsible for cellular ... POSTER
Complex Traits and Polygenic Disorders
2155W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Sahoo, Trilochan Large-scale cytogenomic analysis of ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
456F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Saini, Shubham A reference haplotype panel for ... POSTER
Bioinformatics and Computational Approaches
1457T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Sajan, Samin A. Diagnostic exome sequencing identifies a ... POSTER
Molecular and Cytogenetic Diagnostics
2590W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Sakornsakolpat, Phuwanat Novel genes identified by integrating ... POSTER
Complex Traits and Polygenic Disorders
2224W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Salazar-Fernandez, Pavel Tracing the origin of ancient polynesian ... POSTER
Evolution and Population Genetics
2324T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Salem, Rany M. Novel genetic determinants of diabetic ... POSTER
Complex Traits and Polygenic Disorders
1810W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Salerno, William J. Cloud-based quality measurement of ... POSTER
Bioinformatics and Computational Approaches
1281F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Sallis, Hannah M. Smoking and neuroticism: Using Mendelian ... POSTER
Statistical Genetics and Genetic Epidemiology
2845W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Samango-Sprouse, Carole Discernment in early childhood: ... PLATFORM
Session #20. Reproductive Genetics: Detection, Treatment, and Natural History of Errors
94 Wednesday, October 18
Room 310C, Level 3
12:15 pm
Samocha, Kaitlin E. Identifying highly damaging missense ... POSTER
Statistical Genetics and Genetic Epidemiology
2856F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Sanchez, Ana I. N98S mutation in NEFL gene causing a mild ... POSTER
Mendelian Phenotypes
987F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Sánchez Meza, Patricia Marina Five cases report with maple syrup disease ... POSTER
Mendelian Phenotypes
846F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Sanders, Alan R. RNAseq transcriptome study of ... POSTER
Complex Traits and Polygenic Disorders
2092W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Sanghavi, Kunal Experiences and next steps in utilizing ... POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
508W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Sanlaville, Damien Unravelling structural chromosomal ... POSTER
Molecular and Cytogenetic Diagnostics
2485W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Sanna, Serena Causality links between gut microbiome and ... POSTER
Complex Traits and Polygenic Disorders
1844T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Sant, David Epigenetic suppression of VEGF in retinal ... POSTER
Epigenetics and Gene Regulation
1621W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Santani, Avni B. Influence of guideline adherence and ADRB2 ... POSTER
Complex Traits and Polygenic Disorders
2210T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Santos-Cortez, Regie Lyn Oral cavity findings in A2ML1-related ... POSTER
Mendelian Phenotypes
1175T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Sanyal, Nilotpal GWAS data analysis with non-local prior ... POSTER
Statistical Genetics and Genetic Epidemiology
2913F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Sanyoura, May Personalized medicine in diabetes ... POSTER
Mendelian Phenotypes
852F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Sarayloo, Faezeh Genome editing by CRISPR-Cas9 followed by ... POSTER
Complex Traits and Polygenic Disorders
2031F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Sarkar, Saumya Epigenetic marks at major ... POSTER
Epigenetics and Gene Regulation
1656F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Sarria, Leonor Genomic DNA methylation changes in myalgic ... POSTER
Epigenetics and Gene Regulation
1650F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Sasani, Tom Human immune defense mechanisms drive ... PLATFORM
Session #9. Genome Structure and Function: The Contribution of Mutations to Human Genetic Diversity, Disease, and Evolution
28 Wednesday, October 18
Room 230G, Level 2
10:15 am
Sathirapongsasuti, Fah F. GWAS of canker sores implicates Th-1 ... PLATFORM
Session #39. Advances in the Genetics of Autoimmune Disease
176 Thursday, October 19
Room 220F, Level 2
11:45 am
Sato, Nozomu Expanded-(TGGAA)n-associated ... POSTER
Mendelian Phenotypes
939F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Satterstrom, F. Kyle Rare variants conferring risk for autism ... PLATFORM
Session #71. Autism
283 Friday, October 20
Room 320, Level 3
10:45 am
Saunders, Carol Clinical whole genome sequencing in a ... POSTER
Molecular and Cytogenetic Diagnostics
2555T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Sauteraud, Renan Powerful and robust method for XCI-escape ... POSTER
Epigenetics and Gene Regulation
1665F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Savatt, Juliann M. The impact of sharing patient-derived data ... PLATFORM
Session #58. Data Sharing to Improve Genomic Variant Interpretation
231 Friday, October 20
Room 230C, Level 2
9:30 am
Saw, Woei Yuh Mapping the genetic diversity in ... POSTER
Evolution and Population Genetics
2313F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Sayed, Inas S.M. Early oro-dental manifestations as a clue ... POSTER
Mendelian Phenotypes
923T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Sazonova, Olga V. Minds, genes, and machines: Performance on ... POSTER
Complex Traits and Polygenic Disorders
2093T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Sazonovs, Aleksejs Variants near HLA-DQA1 contribute to the ... POSTER
Complex Traits and Polygenic Disorders
1898T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Scepanovic, Petar Human genetic variation impacts total IgA ... POSTER
Complex Traits and Polygenic Disorders
1912W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Schaid, Daniel J. Multivariate generalized linear model for ... POSTER
Statistical Genetics and Genetic Epidemiology
2952F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Schellevis, Rosa L. Exome sequencing identifies susceptibility ... POSTER
Complex Traits and Polygenic Disorders
2167W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Schilit, Samantha L.P. Uncovering novel cytogenetic and molecular ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
474F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Schmidlen, Tara J. Pharmacogenomic counseling: Exploring ... POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
558F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Schmitz-Abe, Klaus E. New strategies for analyzing exomes from ... PLATFORM
Session #10. Disease Gene Discovery Strategies
30 Wednesday, October 18
Room 310A, Level 3
9:15 am
Schnappauf, Oskar Case report of a patient with ... POSTER
Mendelian Phenotypes
884T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Schneider, Stephanie J. DNA sequence and quality value accuracy ... POSTER
Bioinformatics and Computational Approaches
1401F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Schneider, Valerie A. NCBI resources for visualization and ... POSTER
Omics Technologies
1531W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Schoech, Armin P. Quantification of MAF-dependent ... POSTER
Statistical Genetics and Genetic Epidemiology
2953W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Schoenfeld, Brian Hitting the target: An analysis of ... POSTER
Omics Technologies
1537W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Schork, Andrew A simple, consistent estimator of ... POSTER
Statistical Genetics and Genetic Epidemiology
3010W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Schreiber, Edgar Concurrent determination of ABO RhD blood ... POSTER
Molecular and Cytogenetic Diagnostics
2429T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Schulte, Eva C. Polygenic burden analysis of longitudinal ... POSTER
Complex Traits and Polygenic Disorders
2119W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Schumacher, Cassie Development of a dual platform strategy ... POSTER
Omics Technologies
1492W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Schurmann, Claudia Exome-wide association study of kidney ... POSTER
Complex Traits and Polygenic Disorders
1951W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Schutte, Brian C. A dog model of non-syndromic cleft palate. POSTER
Developmental Genetics and Gene Function
1769T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Schwartz, Camille The NantOmics Pharmacogenomics Test: An ... POSTER
Cancer Genetics
768F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Schwartz, Marci L.B. High incidence of SCN5A c.5350 G>A ... POSTER
Cardiovascular Phenotypes
2615T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Schweiger, Regev Detecting heritable phenotypes without a ... POSTER
Statistical Genetics and Genetic Epidemiology
2980W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Scott, Alan F. De novo genomic assembly and assessment of ... POSTER
Evolution and Population Genetics
2293W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Scott, Daryl A. A new X-linked form of syndromic ... POSTER
Mendelian Phenotypes
1067T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Scott, Richard H. Developing frameworks to evaluate ... POSTER
Molecular and Cytogenetic Diagnostics
2565F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Scott, William K. Genetic variation in GLS2 is associated ... POSTER
Complex Traits and Polygenic Disorders
1939W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Seaby, Eleanor G. Sporadic, isolated Fanconi syndrome due to ... POSTER
Mendelian Phenotypes
1177W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Seed, Cotton Hail: Scaling statistical genetics to tens ... POSTER
Bioinformatics and Computational Approaches
1373T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Seligman, Neil Prenatal evaluation of a fetal cystic ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
471F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Selvarajan, Ilakya Interpreting genetic variation in coronary ... POSTER
Cardiovascular Phenotypes
2746W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Sen, Askin A novel homozygous mutation in two sisters ... POSTER
Mendelian Phenotypes
966F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Sengupta, Sebanti GWAS meta-analysis allowing for sample ... POSTER
Statistical Genetics and Genetic Epidemiology
3011T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Seo, Jieun Targeted sequencing of deep-phenotyped ... POSTER
Complex Traits and Polygenic Disorders
2018T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Serie, Daniel Genome-wide association study of ... POSTER
Cardiovascular Phenotypes
2636T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Sese, Jun Non-additive SNP effect discovery from ... POSTER
Bioinformatics and Computational Approaches
1191F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Setser, Casandra H. Genetic differentiation of Hispanics using ... POSTER
Evolution and Population Genetics
2299W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Settas, Nikolaos Kisspeptin and Kisspeptin receptor may be ... POSTER
Developmental Genetics and Gene Function
1701F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Severin, Emilia Syndromic and nonsyndromic congenitally ... POSTER
Developmental Genetics and Gene Function
1770F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Severson, Alissa Consanguinity, IBD, and ROH: Detangling ... POSTER
Evolution and Population Genetics
2290W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Seyerle, Amanda Anne Rare variation associated with ... POSTER
Complex Traits and Polygenic Disorders
1957W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Shabbeer, Junaid Prenatal screening for 22q11.2 deletions ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
485T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Shaffer, John R. Genome-wide association study of dental ... POSTER
Statistical Genetics and Genetic Epidemiology
2840T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Shagam, Lev I. Novel genotype-phenotype correlations in ... POSTER
Mendelian Phenotypes
896T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Shah, Sohela Diabetome: A comprehensive collection of ... POSTER
Complex Traits and Polygenic Disorders
1811T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Shahin, Mohamed H. A genome-wide association study identifies ... POSTER
Cardiovascular Phenotypes
2678T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Shameer, Khader MiRMed: Therapeutic recommendation and ... POSTER
Bioinformatics and Computational Approaches
1250T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Shams, Soheil A single assay system for CNV, AOH, and ... POSTER
Molecular and Cytogenetic Diagnostics
2575W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Sharafeldin, Noha Impact of interaction between single ... POSTER
Cancer Genetics
656T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Sharma, Indu Mitogenomes sequencing: Reveals huge ... POSTER
Evolution and Population Genetics
2314W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Sharma, Rubina Network analysis of gene polymorphisms in ... POSTER
Complex Traits and Polygenic Disorders
2094F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Sharma, Varun Replication of newly identified type 2 ... POSTER
Complex Traits and Polygenic Disorders
1797F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Sharon, Eilon Quantification of transplant-derived ... POSTER
Bioinformatics and Computational Approaches
1305F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Sharp, Andrew J. RNAseq in 302 phased trios provides a high ... PLATFORM
Session #65. DNA Methylation
259 Friday, October 20
Room 220B, Level 2
10:45 am
Shaw, Jessica R. Evaluating the role of genetic variants on ... POSTER
Cardiovascular Phenotypes
2660T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Shchelochkov, Oleg A. A prospective study of natural history, ... POSTER
Mendelian Phenotypes
1168W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Sheereen, Atia A missense mutation in the CRBN gene that ... POSTER
Mendelian Phenotypes
1051W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Sheikh, Taimoor MeCP2 AT-hook1 mutations disrupt DNA ... POSTER
Developmental Genetics and Gene Function
1754T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Shekar, Sriniranjan Accurate identification of de novo ... POSTER
Bioinformatics and Computational Approaches
1223T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Shelton, Jennifer M. Telomere length dynamics from whole genome ... POSTER
Cancer Genetics
728T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Shemirani, Ruhollah Ultra-rapid detection of ... POSTER
Bioinformatics and Computational Approaches
1282W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Shen, Jiangshan Detecting sex specific mRNA and miRNA ... POSTER
Bioinformatics and Computational Approaches
1420W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Shen, Judong Genome-wide association study identifies ... POSTER
Statistical Genetics and Genetic Epidemiology
2933T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Shen, Sipeng Prognostic signature from DNA methylation ... PLATFORM
Session #88. Functional Analyses of Cancer Genes
299 Saturday, October 21
Room 220B, Level 2
9:00 am
Shen, Yufeng MVP: A deep neural network method of ... POSTER
Bioinformatics and Computational Approaches
1324W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Shetty, Amol C. Sequence read length effects on ... POSTER
Omics Technologies
1490T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Shetty, Aniket Total serum IgE whole genome sequence ... POSTER
Statistical Genetics and Genetic Epidemiology
2949F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Shevchenko, Andrey K. Genome-wide association study of HIV-1 ... POSTER
Statistical Genetics and Genetic Epidemiology
2914W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Shi, Huwenbo Local genetic correlation gives insights ... POSTER
Statistical Genetics and Genetic Epidemiology
2954T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Shi, Jingchunzi Trans-ethnic meta-analysis of rare ... POSTER
Statistical Genetics and Genetic Epidemiology
2784F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Shi, Lisa Early diagnosis of lung cancer: ... PLATFORM
Session #40. Defining High Risk in Cancer
183 Thursday, October 19
Room 230C, Level 2
12:00 pm
Shi, Min Simulating autosomal genotypes with ... POSTER
Statistical Genetics and Genetic Epidemiology
2931F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Shi, Weihui Novel pathogenic point mutation of KDM6A ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
463W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Shi, Yujian Multiple-gene sequencing revealed novel ... POSTER
Cancer Genetics
676W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Shi, Yunling The Million Veteran cohort: A high quality ... POSTER
Complex Traits and Polygenic Disorders
2250F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Shido, Kosuke Genome-wide association study identifies ... POSTER
Statistical Genetics and Genetic Epidemiology
2915T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Shieh, Annie Translation regulation in ... POSTER
Epigenetics and Gene Regulation
1599F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Shigemizu, Daichi IMSindel: An accurate intermediate-size ... POSTER
Bioinformatics and Computational Approaches
1374F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Shim, Sung H. Association between MTHFR, MTHFD1 and RFC1 ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
488T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Shimada, Shino A de novo HNRNPU gene mutation identified ... POSTER
Mendelian Phenotypes
1023F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Shimada, Takafumi Neurodevelopment in Japanese singletons, ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
450F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Shimelis, Hermela Use of functionally classified 207 BRCA2 ... POSTER
Molecular and Cytogenetic Diagnostics
2388F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Shin, Giwon Genome-wide population analysis of 2,543 ... POSTER
Evolution and Population Genetics
2341W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Shin, Joseph Pathogenic and therapeutic epigenetic ... PLATFORM
Session #102. Enhancers and Human Disease
353 Saturday, October 21
Room 310C, Level 3
9:45 am
Shin, Junghoon Oncogenic potential of germline mutations ... PLATFORM
Session #13. Pleiotropism and Penetrance in Cancer-causing Genes
51 Wednesday, October 18
Room 330A, Level 3
10:00 am
Shin, Wonseok Detection of non-reference L1 insertions ... POSTER
Genome Structure and Function
416T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Shirts, Brian H. Capture-recapture method gives estimate of ... PLATFORM
Session #100. Novel Genetic and Environmental Contributions to Cancer Risk
347 Saturday, October 21
Room 230G, Level 2
10:15 am
Shirvani-Farsani, Zeinab The study of Vitamin D effect on VDR gene ... POSTER
Epigenetics and Gene Regulation
1593F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Shor, Tal Sparse linear mixed models for pedigrees ... PLATFORM
Session #7. Modeling Mega-cohorts: Insights & Innovation
15 Wednesday, October 18
Room 220F, Level 2
10:00 am
Shore, Sabrina Preparing small RNA libraries from low ... POSTER
Omics Technologies
1506F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Shoubridge, Cheryl A. Regulating transcriptional activity by ... POSTER
Developmental Genetics and Gene Function
1757T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Shringarpure, Suyash S. Large-scale identity-by-descent mapping ... PLATFORM
Session #36. Genetic Architecture of Rare Variants Across Diseases
160 Thursday, October 19
Room 330A, Level 3
10:15 am
Shu, Chang DNA methylation markers associated with ... POSTER
Epigenetics and Gene Regulation
1615W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Shukla, Anju c.105C>A [p.(Tyr35Ter)] variant in ... POSTER
Mendelian Phenotypes
957F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Shuldiner, Emily G. IL1RN variants influence systemic juvenile ... POSTER
Complex Traits and Polygenic Disorders
1903W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Shungin, Dmitry Meta-analysis of GWAS elucidates genetic ... POSTER
Complex Traits and Polygenic Disorders
2202F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Siddiqui, Moneeza K. Genetic determinants in the LILR gene ... POSTER
Cardiovascular Phenotypes
2668W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Sidorenko, Julia New insights into the genetic architecture ... POSTER
Complex Traits and Polygenic Disorders
2270T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Sieber, Karsten Banks Reinterpreting genetic studies of kidney ... POSTER
Bioinformatics and Computational Approaches
1312W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Sieberts, Solveig K. Using large scale brain eQTL meta-analysis ... PLATFORM
Session #60. Transcriptomics in Complex Neurological/Neuropsychiatric Disease
239 Friday, October 20
Room 310A, Level 3
9:30 am
Sieh, Weiva Genome-wide association study identifies ... POSTER
Cancer Genetics
650T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Siewert, Katherine Mary Detecting long-term balancing selection ... POSTER
Evolution and Population Genetics
2355F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Silva, Beatriz Genetic variants in the 8q24 region are ... POSTER
Cancer Genetics
677T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Silzer, Talisa The intersection of type 2 diabetes and ... POSTER
Complex Traits and Polygenic Disorders
2157F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Sim, Xueling Meta-analysis in 93,701 East Asians ... POSTER
Complex Traits and Polygenic Disorders
1836F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Simon, Jeremy M. Comprehensive catalog of cell types in the ... POSTER
Developmental Genetics and Gene Function
1750W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Simpson, Brittany Nicole Microdeletion of Xp22 encompassing SHOX ... POSTER
Complex Traits and Polygenic Disorders
2189T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Simpson, Claire L. Fetal but not maternal APOL1 genotype is ... POSTER
Complex Traits and Polygenic Disorders
1970T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Sinajon, Pierre Increased nuchal translucency and Noonan ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
467T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Singh, Abanish Race, sex, and age differences in GxE ... POSTER
Cardiovascular Phenotypes
2704W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Singh, Gurvinder Replication of 93 T2D associated SNPs in ... POSTER
Complex Traits and Polygenic Disorders
1826T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Singh, Hanspal Genetic polymorphism and gene expression ... POSTER
Cancer Genetics
822F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Singh, Mayanglambam Dhruba Apoptosis drives the pathogenicity in a ... PLATFORM
Session #43. Gene Discovery and Functional Models of Intellectual Disability
199 Thursday, October 19
Room 310C, Level 3
11:30 am
Singh, Sonal Genome-wide association study reveals ... POSTER
Cardiovascular Phenotypes
2685F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Singh, Subir Investigation of the effect of an ... POSTER
Epigenetics and Gene Regulation
1567W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Singh, Tarjinder Initial results from the meta-analysis of ... POSTER
Complex Traits and Polygenic Disorders
2138T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Singh, Vertika Compromised DNA repair and genomic ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
444F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Sinnott-Armstrong, Nasa An epigenetic switch confers pleiotropic ... PLATFORM
Session #89. Modelling Candidate Disease Variants in Cellular and Animal Models
301 Saturday, October 21
Room 220F, Level 2
8:30 am
Sipeky, Csilla Identification of novel prostate cancer ... POSTER
Cancer Genetics
633F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Sisoudiya, Saumya Evaluating cancer risk in children with ... PLATFORM
Session #100. Novel Genetic and Environmental Contributions to Cancer Risk
346 Saturday, October 21
Room 230G, Level 2
10:00 am
Sistermans, Erik A. The Dutch TRIDENT studies: Implementing ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
455T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Sivasankaran, Sathesh Kumar Transcriptomic analysis of whole blood ... POSTER
Epigenetics and Gene Regulation
1587F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Sivertson, Sydney Utilizing protein quantitative trait loci ... POSTER
Complex Traits and Polygenic Disorders
2273T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Sivley, Robert Michael Identifying the clinical impact of ... POSTER
Statistical Genetics and Genetic Epidemiology
2989W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Sjaarda, Calvin P. Epigenetic dysregulation of DYRK1A may ... POSTER
Complex Traits and Polygenic Disorders
2084T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Sjaarda, Jennifer Identification of blood UMOD and HER2 as ... POSTER
Complex Traits and Polygenic Disorders
1966W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Sjögren, Marketa Elevated genetic risk for coronary artery ... POSTER
Cardiovascular Phenotypes
2661F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Skead, Kimberly The early evolutionary signatures of ... POSTER
Cancer Genetics
710T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Skefos, Catherine Transcriptomic changes in NF1 deficient ... POSTER
Cancer Genetics
843F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Skelly, Dan Examining age, tissue, and genetic effects ... POSTER
Bioinformatics and Computational Approaches
1251F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Skieceviciene, Jurgita MiRNA profiling of pre-cancerous and ... POSTER
Cancer Genetics
823W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Skol, Andrew Sex-specific differences in expression ... PLATFORM
Session #37. Non-coding Variation and Epigenetic Effects in Cancer
166 Thursday, October 19
Room 330C, Level 3
10:15 am
Skoric-Milosavljevic, Doris Genome-wide association study of ... POSTER
Cardiovascular Phenotypes
2679F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Skotte, Line Genome-wide association study of infantile ... POSTER
Developmental Genetics and Gene Function
1702W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Skrypnyk, Cristina Genetic evaluation and counselling of ... POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
534F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Slavin, Thomas P. The prevalence of mosaicism in common ... POSTER
Molecular and Cytogenetic Diagnostics
2414T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Slavotinek, Anne M. De novo, deleterious sequence variants ... PLATFORM
Session #23. Neurodevelopmental Disorders: Causes and Mechanisms
112 Wednesday, October 18
Room 330C, Level 3
12:15 pm
Sleiman, Patrick Comparative whole genome variation and ... POSTER
Evolution and Population Genetics
2287W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Sloan, Cricket A. ENCODE Portal: A cohesive collection of ... POSTER
Bioinformatics and Computational Approaches
1375W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Sloan, Jennifer The first viable mouse model of cblC ... PLATFORM
Session #11. Therapeutic Advances in Mendelian Disease
39 Wednesday, October 18
Room 310C, Level 3
10:00 am
Smajlagic, Dinka Parent-of-origin and maternal effects in ... POSTER
Complex Traits and Polygenic Disorders
2115F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Smieszek, Sandra Severity modifiers in autism spectrum ... POSTER
Statistical Genetics and Genetic Epidemiology
2834T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Smith, Christy Survey of patients with Ollier disease and ... POSTER
Mendelian Phenotypes
907W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Smith, Cynthia L. The Human-Mouse Disease Connection (HMDC) ... PLATFORM
Session #10. Disease Gene Discovery Strategies
31 Wednesday, October 18
Room 310A, Level 3
9:30 am
Smith, Douglas R. Impact of rare variants in genes that ... POSTER
Developmental Genetics and Gene Function
1735W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Smith, Emily Novel loss-of-function mutation of ... POSTER
Complex Traits and Polygenic Disorders
2046F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Smith, Erin N. The iPSCORE resource: 222 iPSC lines ... POSTER
Cardiovascular Phenotypes
2735T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Smith, Jeffrey R. A spectrum of rare Mendelian to common ... PLATFORM
Session #37. Non-coding Variation and Epigenetic Effects in Cancer
162 Thursday, October 19
Room 330C, Level 3
9:15 am
Smith, Scott Carl Characterization of copy number variations ... POSTER
Molecular and Cytogenetic Diagnostics
2473W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Smoley, Stephanie S. Mate-pair sequencing provides advanced ... POSTER
Molecular and Cytogenetic Diagnostics
2411T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Snijders Blok, Lot Missense mutations disrupting the ATPase ... PLATFORM
Session #98. Improved Interpretation of Missense Variants
339 Saturday, October 21
Room 220F, Level 2
10:15 am
Snyder, Michael P. Integrative personal omics profiling ... PLATFORM
Session #70. Context Matters: Genes, Environment, and Sex (Part 2)
278 Friday, October 20
Room 310C, Level 3
10:30 am
Soave, David Uncovering the genetic determinants of ... POSTER
Cardiovascular Phenotypes
2662W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Soemedi, Rachel Pathogenic variants that alter protein ... POSTER
Omics Technologies
1511T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Sofer, Tamar Generalizing genetic risk scores from ... POSTER
Statistical Genetics and Genetic Epidemiology
2962W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Solomon, Terry Integration of exome genetic variation ... POSTER
Cardiovascular Phenotypes
2733F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Solyom, Alexander Acid ceramidase deficiency (Farber ... POSTER
Mendelian Phenotypes
1140F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Somineni, Hari K. Whole blood DNA methylation signatures of ... POSTER
Epigenetics and Gene Regulation
1561W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Sondhi, Arjun Fast permutation tests and related methods ... POSTER
Statistical Genetics and Genetic Epidemiology
2964F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Song, Brian Practical noninvasive biomarkers: ... POSTER
Cancer Genetics
729F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Song, Kijoung Development of a pipeline to support ... PLATFORM
Session #99. Big Data Approaches in Support of Population Studies
341 Saturday, October 21
Room 230C, Level 2
9:45 am
Song, Shiya Studying global variation of gene flow ... POSTER
Evolution and Population Genetics
2364F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Song, SoYoung Targeted next-generation sequencing for ... POSTER
Genome Structure and Function
411F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Song, Xiaofei Predicting hotspots of Alu/Alu-mediated ... POSTER
Genome Structure and Function
438F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Song, Xiaoyu QRank: A novel quantile regression tool ... POSTER
Bioinformatics and Computational Approaches
1307T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Sood, Roshan Investigations of unmapped reads from ... POSTER
Bioinformatics and Computational Approaches
1435W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Sookoian, Silvia Profiling of the long non-coding RNA ... POSTER
Complex Traits and Polygenic Disorders
1816W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Soria, Leandro Enhancement of hepatic autophagy increases ... POSTER
Mendelian Phenotypes
1164F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Sorlin, Arthur Detection of mosaic copy-number variation ... POSTER
Molecular and Cytogenetic Diagnostics
2448F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Sorokin, Elena Novel insights into clinically relevant ... PLATFORM
Session #7. Modeling Mega-cohorts: Insights & Innovation
11 Wednesday, October 18
Room 220F, Level 2
9:00 am
Soster, Erica Comparing maternal malignancies and ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
493W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Souza, Welliton Cloud computing environment for hosting ... POSTER
Bioinformatics and Computational Approaches
1376T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Soylemez, Onuralp Statistical and population genetics of ... POSTER
Statistical Genetics and Genetic Epidemiology
3012F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Spalding, John European Genome-phenome Archive: Finding, ... POSTER
Omics Technologies
1518F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Speliotes, Elizabeth K. Measures of body composition and muscle ... POSTER
Complex Traits and Polygenic Disorders
1812F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Spracklen, Cassandra N. Fine-mapping and characterization of GWAS ... POSTER
Statistical Genetics and Genetic Epidemiology
2770W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Sprogøe, Kennett Structural optimization of TransCon CNP: ... POSTER
Developmental Genetics and Gene Function
1708W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Sridhar, Arthi Genetic causes of heterotaxy identified by ... POSTER
Cardiovascular Phenotypes
2757F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Sriretnakumar, Venuja Enrichment of treatable metabolic disease ... POSTER
Complex Traits and Polygenic Disorders
2139F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Srivastava, Anshika Congenital heart defects in Bainbridge ... PLATFORM
Session #59. Congenital and Pediatric Heart Diseases
236 Friday, October 20
Room 230G, Level 2
9:45 am
Srivastava, Anuj Revisiting the mouse reference genome: ... POSTER
Genome Structure and Function
405F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
St Pourcain, Beate Low frequency genetic variation in TP53 is ... POSTER
Complex Traits and Polygenic Disorders
2213T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Stadler, Zsofia K. Exome sequencing identifies de novo ... PLATFORM
Session #15. Screening Cancer Cohorts for Novel Germline Cancer Genes
59 Wednesday, October 18
Room 220B, Level 2
11:00 am
Stafford, Jaime Molecular insights into the missing ... POSTER
Molecular and Cytogenetic Diagnostics
2404W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Stamoulis, Georgios Single cell allele specific expression ... POSTER
Genome Structure and Function
396F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Stanaway, Ian Genotype array missing variant imputation ... POSTER
Bioinformatics and Computational Approaches
1402W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Stankiewicz, Pawel Haploinsufficiency of the ... PLATFORM
Session #101. Neurological Disorders: Chromatin in the Spotlight
351 Saturday, October 21
Room 310A, Level 3
10:15 am
Staples, Jeffrey Completing a human gene knockout catalog ... PLATFORM
Session #21. Leveraging Human Knockouts to Understand Biology
99 Wednesday, October 18
Room 320, Level 3
12:00 pm
Starlard-Davenport, Athena Prevalence of the UGT1A1*28 polymorphism ... POSTER
Cancer Genetics
598W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Stein, Michelle Sex-specific transcriptional responses to ... POSTER
Complex Traits and Polygenic Disorders
1935F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Stepanov, Vadim A. Genetic markers in LUZP2 and FXBO40 genes ... POSTER
Complex Traits and Polygenic Disorders
2019F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Stern, Aaron J. An approximate full-likelihood coalescent ... PLATFORM
Session #41. Natural Selection on Human Phenotypes
189 Thursday, October 19
Room 230G, Level 2
12:00 pm
Steward, Alta M. Phenotypic profiles of GBA1 mutation ... POSTER
Mendelian Phenotypes
1003W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Stewart, Fiona DNA repair improves sequencing accuracy in ... POSTER
Cancer Genetics
786F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Stobdan, Tsering New favored haplotype alleles in human ... POSTER
Evolution and Population Genetics
2285T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Stock, Jacquie Measuring health outcomes in telegenetics. POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
590T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Stoll, Claude Associated anomalies in cases with ... POSTER
Developmental Genetics and Gene Function
1780W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Stone, Annjanette Pharmacogenetic testing in the Veterans ... PLATFORM
Session #104. Advancing Drug Discovery by Genetic Analysis in Large Cohorts
362 Saturday, October 21
Room 330A, Level 3
10:00 am
Stong, Nicholas Diagnostic variant prioritization using a ... POSTER
Bioinformatics and Computational Approaches
1417W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Strande, Natasha T. Going beyond the ACMG recommendations for ... POSTER
Molecular and Cytogenetic Diagnostics
2561T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Stranger, Barbara E. Polygenic selection underlies evolution of ... PLATFORM
Session #41. Natural Selection on Human Phenotypes
188 Thursday, October 19
Room 230G, Level 2
11:45 am
Strattan, J S. The ENCODE annotation pipeline: Repeatable ... POSTER
Bioinformatics and Computational Approaches
1377F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Strober, Benjamin J. Prioritizing functional rare variants: The ... PLATFORM
Session #96. Investigating the Role of Non-coding Variants in Disease
330 Saturday, October 21
Room 330C, Level 3
8:45 am
Strom, Samuel P. Chromosomal sequencing analysis: Assessing ... POSTER
Bioinformatics and Computational Approaches
1248F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Stuenkel, Aaron J. Coverage matters: High rate of promoter 1B ... PLATFORM
Session #13. Pleiotropism and Penetrance in Cancer-causing Genes
52 Wednesday, October 18
Room 330A, Level 3
10:15 am
Stutterd, Chloe Severe leukodystrophy with complete ... POSTER
Mendelian Phenotypes
1079T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Su, Bing Integrated analysis supports ATXN1 as a ... POSTER
Complex Traits and Polygenic Disorders
2140W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Su, KuanJui Gene-based pathway analysis for ... POSTER
Statistical Genetics and Genetic Epidemiology
2810T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Su, Mei-Tsz Differential miR-346 and miR-582-3p ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
475W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Su, Ming-Wei 1000 high coverage whole-genome sequences ... POSTER
Evolution and Population Genetics
2344W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Su, Yajie The incidence and mutational spectra of ... POSTER
Mendelian Phenotypes
855F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Suarez, Fernando Physicians attitudes, knowledge and ... POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
524T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Subaran, Ryan Mutual allelic constraint in a human taste ... POSTER
Complex Traits and Polygenic Disorders
2247F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Sudhakar, Digumarthi V.S. Novel genes for male infertility: Genetic ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
479T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Suer, Funda Development of an evidence based sequence ... POSTER
Statistical Genetics and Genetic Epidemiology
2967F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Sumegi, Katalin Novel myopathic phenotype due to a newly ... POSTER
Molecular and Cytogenetic Diagnostics
2459T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Sumner, Kelli EIF2AK4 mutations are not likely a common ... POSTER
Cardiovascular Phenotypes
2622F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Sun, Benjamin B. Genetic determinants of the human plasma ... PLATFORM
Session #68. Blood Omics in Large Cohorts
270 Friday, October 20
Room 230G, Level 2
10:30 am
Sun, Chao Structural and sequence characterization ... POSTER
Mendelian Phenotypes
994W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Sun, Junhui LCA9-associated NMNAT1 mutant protein ... POSTER
Developmental Genetics and Gene Function
1765W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Sun, Kun Noninvasive reconstruction of fetal ... POSTER
Bioinformatics and Computational Approaches
1318W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Sun, Lei Bayesian model averaging for the ... POSTER
Statistical Genetics and Genetic Epidemiology
3013W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Sun, Ning Genetics of schizophrenia in Cooperative ... POSTER
Complex Traits and Polygenic Disorders
2098W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Sun, Yan Genetic effects of familial ... POSTER
Complex Traits and Polygenic Disorders
1874T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Sun, Yingrui Use low-depth and high-depth whole genome ... POSTER
Statistical Genetics and Genetic Epidemiology
2886F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Sunayana, Syed B. The communal relation of MTHFR, MTR, RFC ... POSTER
Cardiovascular Phenotypes
2755W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Sund, Kristen L. A novel mutation in eukaryotic elongation ... POSTER
Mendelian Phenotypes
940W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Sung, Heejong Identification of IRF4, NOTCH4 and RPS12 ... POSTER
Complex Traits and Polygenic Disorders
1982T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Sung, Jungeun Circulating cells protect against ... POSTER
Developmental Genetics and Gene Function
1696W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Sung, Yun J. Multi-ancestry genome-wide study ... POSTER
Cardiovascular Phenotypes
2705T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Suzuki, Akari Reduced severity of collagen-induced ... POSTER
Complex Traits and Polygenic Disorders
1928T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Suzumori, Nobuhiro Fetal cell-free DNA fraction in maternal ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
473T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Sveinbjornsson, Gardar Family based method for the discovery of ... POSTER
Cardiovascular Phenotypes
2710W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Svobodova, Iveta Genome-wide miRNA profiling in plasma of ... POSTER
Epigenetics and Gene Regulation
1628T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Sweet, Mary E. RNA-seq of human heart tissue identifies ... POSTER
Cardiovascular Phenotypes
2754F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Szafranski, Przemyslaw Evolutionarily young LINE elements ... PLATFORM
Session #9. Genome Structure and Function: The Contribution of Mutations to Human Genetic Diversity, Disease, and Evolution
27 Wednesday, October 18
Room 230G, Level 2
10:00 am
Szigeti, Kinga Age-related structural changes of the ... POSTER
Genome Structure and Function
383T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm