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.

 

New for 2015! 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
Sabater-Lleal, Maria Genome-wide association analysis of ... POSTER
Cardiovascular Genetics
595W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Sabatini, Peter J.B. A method for detecting intragenic copy ... PLATFORM
Session #18. Addressing the Difficult Regions of the Genome
33 Wednesday, October 7
Room 309, Level 3
4:00 pm
Sabbaghian, Marjan Evaluation of the expression of AR and ... POSTER
Prenatal, Perinatal and Reproductive Genetics
2122T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Sabourin, Jeremy A. The use of Complimentary Pairs Stability ... POSTER
Statistical Genetics and Genetic Epidemiology
1329W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Sadek, khaled Polymorphisms in Macrophage Migration ... POSTER
Complex Traits and Polygenic Disorders
964F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Saeed, Sadia Sequential sequencing approach elucidates ... POSTER
Molecular Basis of Mendelian Disorders
2922T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Saeidian, Amir Hossein GSK3β is a pivotal regulator in ... POSTER
Cancer Genetics
2785W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Saeidnejad, Mahnaz Evaluation of four putative genetic risk ... POSTER
Cancer Genetics
2661W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Safarova, Maya S. A phenome-wide scan to detect pleiotropic ... POSTER
Cardiovascular Genetics
634W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Saglam Ada, Burcu Haplotype analysis of common variants in ... POSTER
Cancer Genetics
2625W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Saha, Ashis Tissue-specific transcriptome-wide ... PLATFORM
Session #16. Switching on to Regulatory Variation
15 Wednesday, October 7
Ballroom III, Level 4
3:30 pm
Sahoo, Trilochan Expanding non-invasive prenatal testing to ... PLATFORM
Session #34. The Real Next Gen: Reproductive Genetics
149 Thursday, October 8
Room 307, Level 3
5:30 pm
Saitsu, Hirotomo Phenotypic spectrum of GNAO1 variants: ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1237F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Saiyed, Nazia M. Sporadic Hidradenitis Suppurativa (acne ... POSTER
Molecular Basis of Mendelian Disorders
2824F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Saklatvala, Jake R. Text-mined phenotype annotation and ... POSTER
Bioinformatics and Genomic Technology
1698F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Saleh, Maha S. Prenatal Caffey Disease: A Tale of Two ... POSTER
Prenatal, Perinatal and Reproductive Genetics
2128T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Salem, Rany M. Identification of Novel Metabolic Syndrome ... POSTER
Complex Traits and Polygenic Disorders
860W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Salgado, David VarAFT: A variant annotation and ... POSTER
Bioinformatics and Genomic Technology
1640T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Salie, Muneeb An investigation of toll-like receptors in ... POSTER
Complex Traits and Polygenic Disorders
969T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Salleh, N Investigation into Clinical Significance ... POSTER
Molecular Basis of Mendelian Disorders
2828W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Sallis, Hannah M. Genetics of depression across adolescence. POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1093F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Salo, Perttu A rare missense variant in the B-type ... PLATFORM
Session #35. Genetic Problems of the Heart, Aorta, and Valves
159 Thursday, October 8
Room 309, Level 3
6:00 pm
Salpea, Paraskevi PRKACA defects and adrenal tumors: Human ... PLATFORM
Session #51. Cancer Genetic Mechanisms
241 Friday, October 9
Room 318/321, Level 3
3:45 pm
Saluto, Alessandro Familial Hypercholesterolemia (FH): ... POSTER
Metabolic Disorders
2326F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Samango-Sprouse, Carole A. The Impact of Early Hormonal Therapy (EHT) ... POSTER
Clinical Genetics and Dysmorphology
2360T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Samarakoon, Pubudu S. cnvScan: a CNV screening and annotation ... POSTER
Bioinformatics and Genomic Technology
1641F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Samocha, Kaitlin E. Evaluation of the regional variability of ... PLATFORM
Session #19. Statistical Genetics: Complex Phenotypes, Complex Solutions
41 Wednesday, October 7
Room 316, Level 3
4:00 pm
Sanches-Kuiper, Raquel TruSeq®FFPE DNA Library Prep, a ... POSTER
Cancer Genetics
2792T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Sanchez, Alice M. Phoenix Web: Presenting Relevant Lab Data ... POSTER
Bioinformatics and Genomic Technology
1854F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Sanderson, Saskia Catherine What is the psychological impact of ... POSTER
Ethical, Legal, Social and Policy Issues in Genetics
2190F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Sandor, Cynthia Clustering of exome variants from 6272 ... PLATFORM
Session #59. Metabolic Traits and Disease: Discovery and Function
306 Friday, October 9
Room 318/321, Level 3
6:15 pm
Sanghera, Dharambir K. Genetic, Geographic and Cultural ... POSTER
Evolutionary and Population Genetics
1558T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Sanjai, Deepti Improved sequencing and transcript ... POSTER
Bioinformatics and Genomic Technology
1905F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Sankararaman, Sriram The evolutionary impact of Denisovan ... PLATFORM
Session #61. From Here to There: Reconstructing Human History
319 Friday, October 9
Holiday Ballroom 4, 2nd Floor
5:30 pm
Sanna, Serena The burden of Multiple Sclerosis variants ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1062T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Sant, David W. Transcriptome Comparison of Rat and Human ... POSTER
Therapy for Genetic Disorders
504W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Santana-Bejarano, Uriel-Francisco Gene expresion analysis of TNF-α, ... POSTER
Cancer Genetics
2737W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Santorico, Stephanie A. Genome-wide association studies of ... POSTER
Complex Traits and Polygenic Disorders
939T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Santos, Savana CL Analysis of a broad spectrum of mutations ... POSTER
Molecular Basis of Mendelian Disorders
3014W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Santos-Cortez, Regie Lyn P. A rare A2ML1 variant confers ... PLATFORM
Session #24. Going All In: Experimental Characterization of Complex Trait Loci
71 Thursday, October 8
Ballroom I, Level 4
3:30 pm
Sapkota, Bishwa R. GWAS of 25(OH) Vitamin D concentrations in ... POSTER
Complex Traits and Polygenic Disorders
943F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Sardell, Rebecca J. Defining endophenotypes of Age-related ... POSTER
Complex Traits and Polygenic Disorders
875W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Sarin, Antti-Pekka Imputing LoF variants in Finnish founder ... POSTER
Statistical Genetics and Genetic Epidemiology
1432T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Saris, Jasper J. Supplemental CNV analysis in NGS genepanel ... PLATFORM
Session #18. Addressing the Difficult Regions of the Genome
29 Wednesday, October 7
Room 309, Level 3
3:00 pm
Sarkar, Abhishek K. Regulatory annotations implicate thousands ... POSTER
Complex Traits and Polygenic Disorders
994F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Sarubi, Helena C. Contribution of molecular changes to Uveal ... POSTER
Cancer Genetics
2662T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
sathirapongsasuti, fah f. A Practical Guide to Drug Discovery ... PLATFORM
Session #67. Opening Up Big Data
339 Saturday, October 10
Ballroom III, Level 4
11:30 am
Sathyanarayanan, Anita Benchmarking Strand NGS RNA aligner ... POSTER
Bioinformatics and Genomic Technology
1642W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Satyanarayana, Matsa L. POSSIBLE PATHOLOGICAL EVENTS INVOLVED IN ... POSTER
Cardiovascular Genetics
630F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Saunders, Ed Association Between DNA Repair Gene ... POSTER
Cancer Genetics
2586T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Saunders, Gary I. The European Variation Archive: ... PLATFORM
Session #67. Opening Up Big Data
336 Saturday, October 10
Ballroom III, Level 4
10:45 am
Saunier, Chloé NAA10 missense mutations cause ... POSTER
Molecular Basis of Mendelian Disorders
2982T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Schaefer, Catherine Schizophrenia Polygenic Risk Score is ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1094W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Schaffer, Ashleigh E. Biallelic loss of human CTNNA2, encoding ... PLATFORM
Session #48. New Genes and Mechanisms in Developmental Disorders and Intellectual Disabilities
211 Friday, October 9
Room 307, Level 3
2:15 pm
Schaffer, Katherine Using zebrafish to model the role of ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1147F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Schageman, Jeoffrey J. Clinical validation of a NGS based in ... POSTER
Clinical Genetic Testing
1930W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Scharer, Gunter Screening for mucopolysaccharidosis ... POSTER
Metabolic Disorders
2283T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Scharf, Jeremiah M. An international, collaborative ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1066F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Scheidecker, Sophie Identification of a new mutation in C2CD3 ... POSTER
Clinical Genetics and Dysmorphology
2408T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Scheinfeldt, Laura B. Using the Coriell Personalized Medicine ... POSTER
Statistical Genetics and Genetic Epidemiology
1330T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Schepers, Dorien Pathogenetic study at the intersection of ... POSTER
Cardiovascular Genetics
526W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Scherer, Steven PGRN-seq v.2: A second-generation ... POSTER
Pharmacogenetics
684W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Schick, Ursula Meta-analysis of exome chip variants ... POSTER
Complex Traits and Polygenic Disorders
945T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Schillert, Arne Comparison of preprocessing methods for ... POSTER
Bioinformatics and Genomic Technology
1725F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Schilter, Kala F. The Etiological Exploration of PHACE ... POSTER
Clinical Genetics and Dysmorphology
2411T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Schleede, Justin B. qPCR confirmation and follow-up testing of ... POSTER
Cytogenetics
2537F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Schleit, Jennifer Order of intron splicing is an important ... POSTER
Molecular Basis of Mendelian Disorders
3022F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Schlessinger, David Measuring the rate and heritability of ... POSTER
Statistical Genetics and Genetic Epidemiology
1441T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Schlingman, Daniel TruSeq Rapid Exome: A new improved exome ... POSTER
Bioinformatics and Genomic Technology
1836F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Schmidt, Ellen Marie Analysis of structural variants in 2,200 ... POSTER
Genome structure, variation and function
3151F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Schmidt, Jeanette P. Novel genotyping algorithms for ... POSTER
Pharmacogenetics
697T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Schnall-Levin, Michael A Microfluidic System for Generating ... POSTER
Genome structure, variation and function
3192T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Schneider, Valerie A. NCBI resources for taking advantage of the ... POSTER
Bioinformatics and Genomic Technology
1748T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Scholz, Markus Integrative analysis of a GWAS for amino ... POSTER
Complex Traits and Polygenic Disorders
948T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Schotik, Maria Whole-exome sequencing identifies a novel ... POSTER
Genome structure, variation and function
3123F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Schott, Amanda R. Increased Prevalence of Malignancy in ... POSTER
Clinical Genetics and Dysmorphology
2381T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Schrader, Kasmintan A. Clinical multiplex genetic testing using a ... POSTER
Cancer Genetics
2738T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Schrauwen, Isabelle Exome Sequencing Suggests Aicardi Syndrome ... PLATFORM
Session #57. New Thoughts about Neurodevelopment and Intellectual Disability
286 Friday, October 9
Room 309, Level 3
5:15 pm
Schreiber, Edgar H. Confirming Variants Discovered by Next ... POSTER
Bioinformatics and Genomic Technology
1811T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Schubert, Jeffrey A. Clinically relevant variants identfied in ... POSTER
Cardiovascular Genetics
623T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Schulz, Heidi L. Comprehensive molecular analysis of the ... POSTER
Clinical Genetic Testing
2078T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Schurmann, Claudia Genetic contributions to long-term severe ... PLATFORM
Session #59. Metabolic Traits and Disease: Discovery and Function
302 Friday, October 9
Room 318/321, Level 3
5:15 pm
Schurr, Theodore Reconstructing the Genetic History of ... POSTER
Evolutionary and Population Genetics
1451W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Schwantes-An, Tae-Hwi Statistical properties of spatial ... POSTER
Statistical Genetics and Genetic Epidemiology
1316F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Schwartz, Chad T. Towards a Standardized and Automated ... POSTER
Bioinformatics and Genomic Technology
1884F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Schwartz, Michael Accurate somatic mutation detection at low ... POSTER
Bioinformatics and Genomic Technology
1643T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Schwartz, Stuart Insights, mechansims and fundamental ... PLATFORM
Session #70. Precision Cancer Sequencing
362 Saturday, October 10
Room 316, Level 3
11:15 am
Schweiger, Regev Quantifying Uncertainty in Heritability ... PLATFORM
Session #25. Powering Up Complex Trait Genetics
81 Thursday, October 8
Ballroom III, Level 4
4:00 pm
Schwender, Holger Analyzing case-parent trio data with the R ... POSTER
Statistical Genetics and Genetic Epidemiology
1285T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Scionti, Francesca An interstitial 2q22.3q23.2 deletion not ... POSTER
Clinical Genetics and Dysmorphology
2388F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Scollon, Sarah The return of whole exome sequencing ... PLATFORM
Session #53. The Real World: Translating Sequencing into the Clinic
254 Friday, October 9
Holiday Ballroom 4, 2nd Floor
3:00 pm
Scott, Erika A LRRK2 haplotype provides protection for ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1051F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Scott, William K. Genome-wide interaction study of Parkinson ... PLATFORM
Session #28. Adult-onset Neuropsychiatric Disease
100 Thursday, October 8
Room 316, Level 3
2:45 pm
Seaby, Eleanor G. Pre-clinical cancer: an example of how ... POSTER
Clinical Genetic Testing
1973T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Sebra, Robert Building a Better Human Genome Reference ... PLATFORM
Session #50. Going Platinum: Building a Better Genome
228 Friday, October 9
Room 316, Level 3
2:30 pm
Secolin, Rodrigo Identification of non-coding RNAs related ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1134T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Segre, Ayellet V. Integrative analysis of five cancer GWAS ... PLATFORM
Session #51. Cancer Genetic Mechanisms
235 Friday, October 9
Room 318/321, Level 3
2:15 pm
Sekar, Aswin Complex structural variation in the MHC ... POSTER
Genome structure, variation and function
3136T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Seldin, Michael F. Genome-wide Study of Late-Onset Myasthenia ... POSTER
Complex Traits and Polygenic Disorders
883F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Seller, Anneke A co-ordinated national approach to ... POSTER
Genetics/Genomics Education
2221F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Sellmer, Laura Parkinson’s disease and genetic ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1052W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Selvarajan, Dhileepan Adult onset motor neuron disease ... POSTER
Molecular Basis of Mendelian Disorders
2837W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Seman, Ann R. UPD1 in a Newborn with Multiple Congenital ... POSTER
Clinical Genetic Testing
2085F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Sen, Shurjo K. STEM9, a novel non-coding RNA on ... POSTER
Cardiovascular Genetics
527T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Seneca, Sara The common MERRF mutation in a three ... POSTER
Metabolic Disorders
2298F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Sengupta, Dhriti A novel approach to developing an ancestry ... POSTER
Evolutionary and Population Genetics
1463W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Seo, Soo Hyun Application of multigene panel sequencing ... POSTER
Clinical Genetic Testing
1997T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Serajee, Fatema J. A distinct type of 3-methylglutaconic ... POSTER
Metabolic Disorders
2299T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Sese, Jun COSMOS: accurate detection of complex ... POSTER
Bioinformatics and Genomic Technology
1644F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Severin, Emilia Severity of oro-dental phenotype in Down ... POSTER
Cytogenetics
2518F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Seyedhassani, Seyed Mohammad Novel FKBP10 mutation induces osteogenesis ... POSTER
Molecular Basis of Mendelian Disorders
3015T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Shaath, Hibah A Novel OFD1 Missense Mutation Causes an ... POSTER
Molecular Basis of Mendelian Disorders
2900W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Shabalin, Andrey A. Estimating and accounting for cell type ... POSTER
Epigenetics
439T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Shabsovich, David S. Molecular cytogenetic analysis of ... POSTER
Cytogenetics
2526F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Shaffer, John R. Online human population genetics ... POSTER
Bioinformatics and Genomic Technology
1701F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Shagam, Lev I. Identification of 4 novel mutations in a ... POSTER
Molecular Basis of Mendelian Disorders
2925T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Shah, Kaanan P. The Role of Mendelian Genes in Complex ... POSTER
Complex Traits and Polygenic Disorders
1012F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Shah, Sohela Ingenuity Variant Analysis, leveraging the ... POSTER
Bioinformatics and Genomic Technology
1913T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Shahin, Mohamed H. ­­Identifying a Novel Hypertension ... POSTER
Pharmacogenetics
674W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Shahir, Nur M. Analysis of mucosal adherent 16S rRNA ... POSTER
Genome structure, variation and function
3104T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Shahni, Rojeen Signal transducer and activator of ... PLATFORM
Session #72. Inborn Errors of Metabolism: Novel Disorders, Models, and Observations
377 Saturday, October 10
Holiday Ballroom 1, 2nd Floor
11:00 am
Shahzad, Mohsin Molecular genetic studies of the ... POSTER
Molecular Basis of Mendelian Disorders
2890F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Shaik, Noor A. Integrative In-Silico Functional ... POSTER
Complex Traits and Polygenic Disorders
838F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Shalata, Adel Novel MYLK gene mutation in a Large Family ... POSTER
Cardiovascular Genetics
528F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Shameer, Khader A Genome-Wide Association Study of ... POSTER
Complex Traits and Polygenic Disorders
944W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Shams, Soheil Decision Tree Machine Learning Approach to ... POSTER
Bioinformatics and Genomic Technology
1798W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Shang, Mengqiao MicroRNAs signature in PBMCs from ... POSTER
Genome structure, variation and function
3053F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Shankaracharya, S A tool for developing and validating ... POSTER
Bioinformatics and Genomic Technology
1645W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Shanmugam, Hari Molecular Pathogenesis of Congenital ... POSTER
Clinical Genetics and Dysmorphology
2487F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Shanmugham, Anita Microcephaly panel testing reveals an ... POSTER
Clinical Genetic Testing
2091F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Shariati, Gholamreza Deciphering of a rare autosomal recessive ... POSTER
Molecular Basis of Mendelian Disorders
2932F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Sharma, Amar ch. Genetic variation in the SMAD3 gene is ... POSTER
Clinical Genetic Testing
2098W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Sharma, Rubina Interaction Analysis of CAPN10 and ... POSTER
Complex Traits and Polygenic Disorders
967F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Sharopova, Natalya molQTL, An integrated NCBI resource for ... POSTER
Bioinformatics and Genomic Technology
1679T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Sharp, Kevin J. Phasing using rare variants and large ... POSTER
Statistical Genetics and Genetic Epidemiology
1277F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Shayota, Brian Jacob A Novel 17q24.2 Microdeletion Localized to ... POSTER
Clinical Genetics and Dysmorphology
2373F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Shchelochkov, Oleg A Zebrafish Knockout of Argininosuccinate ... POSTER
Metabolic Disorders
2271T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Sheets, Kayla M. Paternity Reclaimed: Ancestry Testing ... POSTER
Clinical Genetic Testing
2004F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Sheikh, Taimoor I. Translational correlation of MeCP2 binding ... POSTER
Genome structure, variation and function
3111F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Shekari khaniani, Mahmoud Molecular analysis and prevalence of ... POSTER
Molecular Basis of Mendelian Disorders
2996W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Shen, Feichen QuicK-mer: A rapid paralog sensitive CNV ... POSTER
Bioinformatics and Genomic Technology
1646T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Shen, Jincheng Study the effects of multiple mediators ... POSTER
Statistical Genetics and Genetic Epidemiology
1445F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Shen, Jun SHIELD: an integrative gene expression ... POSTER
Bioinformatics and Genomic Technology
1843W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Shen, Ling Identification of Causal Mechanisms in ... POSTER
Statistical Genetics and Genetic Epidemiology
1312T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Shen, Lishuang EyeSeq - Toward a Comprehensive Genomic ... POSTER
Genome structure, variation and function
3148T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Shen, Susan Q. Identifying enhancer variants at the ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1204F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Shen, Yin A high-throughput functional screening ... POSTER
Genome structure, variation and function
3031F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Sherman, Westley A. HPMV: Human Protein Mutation Viewer. POSTER
Bioinformatics and Genomic Technology
1671F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Sherry, Stephen T. Accessing genomic evidence for clinical ... POSTER
Bioinformatics and Genomic Technology
1858W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Sheth, Frenny J. Towards the identification of 9p21.1 ... POSTER
Clinical Genetics and Dysmorphology
2361F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Sheth, Jayesh J. Identification of known and novel ... POSTER
Clinical Genetic Testing
2003T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Shetty, Amol C. Rare variants – the key to decipher ... POSTER
Evolutionary and Population Genetics
1581W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Shi, Huwenbo Fine-scale mapping of genomic heritability ... POSTER
Complex Traits and Polygenic Disorders
797W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Shi, Jianxin Detection of Master Regulatory SNPs in ... PLATFORM
Session #49. Statistical Genetics: Networks, Pathways, and Expression
222 Friday, October 9
Room 309, Level 3
3:00 pm
Shi, Lisong Cytogenomic and molecular refinement of ... POSTER
Clinical Genetic Testing
1988T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Shieh, Joseph T. Interpreting Exome Data Using ... POSTER
Clinical Genetic Testing
2096T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Shigemizu, Daichi Performance comparison of four commercial ... POSTER
Bioinformatics and Genomic Technology
1876W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Shih, Yen Cheng Biochemical Pathways Involved in Betel ... POSTER
Cancer Genetics
2587W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Shimada-Sugimoto, Mihoko Search for new susceptibility genetic ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1075F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Shimbo, Hiroko Molecular genetic study and urine analysis ... POSTER
Metabolic Disorders
2300F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Shimizu, Atsushi An automated drawing tool of pedigree, ... POSTER
Genetic Counseling
2202F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Shin, Giwon STR-Seq: a next generation technology for ... POSTER
Genome structure, variation and function
3156T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Shin, Jihyung Layered genetic control of DNA methylation ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1193W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
SHIN, YOUNGAH Identification of a possible ... POSTER
Statistical Genetics and Genetic Epidemiology
1331F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Shirts, Brian H. Power of Single Extended Pedigrees to ... POSTER
Statistical Genetics and Genetic Epidemiology
1382F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Shively, Kathryn M. Mutations in MYLPF cause a novel segmental ... POSTER
Molecular Basis of Mendelian Disorders
3017W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Shooshtari, Parisa A General Analytical Framework to Identify ... PLATFORM
Session #25. Powering Up Complex Trait Genetics
76 Thursday, October 8
Ballroom III, Level 4
2:45 pm
Shore, Sabrina Pushing the Limits of Small RNA-Seq with ... POSTER
Bioinformatics and Genomic Technology
1894W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Shoubridge, Cheryl Investigating the transcriptome wide ... PLATFORM
Session #73. Intellectual Ability and Disability
388 Saturday, October 10
Holiday Ballroom 4, 2nd Floor
11:45 am
Shraga, Roman Carrier Risk Estimation using Single ... POSTER
Bioinformatics and Genomic Technology
1769T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Shringarpure, Suyash S. Privacy leaks from genomic data-sharing ... POSTER
Evolutionary and Population Genetics
1583W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Shui, Irene M. DNA methylation may mediate the ... POSTER
Epigenetics
405T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Shukla, Tanuj A novel functional VKORC1 promoter ... POSTER
Cardiovascular Genetics
564F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Sicotte, Hugues Single Sample Imputation from Next ... POSTER
Bioinformatics and Genomic Technology
1756W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Siddiqui, Moneeza Kalhan A common missense variant of LILRB5 is ... POSTER
Pharmacogenetics
662W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Sidore, Carlo Whole genome sequencing increase the power ... PLATFORM
Session #32. Human-wide Association Studies: More Genotypes, More Phenotypes, More Diverse Populations
138 Thursday, October 8
Ballroom I, Level 4
6:45 pm
Siebenthall, Kyle Developmental expression patterns and ... POSTER
Genome structure, variation and function
3043F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Sieber, Karsten Banks Modeling Pseudomonas DNA Integrations into ... POSTER
Bioinformatics and Genomic Technology
1799T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Sifrim, Alejandro Discovery of novel genes underlying ... PLATFORM
Session #35. Genetic Problems of the Heart, Aorta, and Valves
158 Thursday, October 8
Room 309, Level 3
5:45 pm
Silva-Cruz, Rocío Trisomy 9p. Rethore syndrome, case report. POSTER
Cytogenetics
2519F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Silver, Ari Virtual progeny analytics providesa ... POSTER
Bioinformatics and Genomic Technology
1681W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Silver, Maxwell J. A comprehensive methodology for assessing ... PLATFORM
Session #33. Decoding Variants in Coding Regions
144 Thursday, October 8
Ballroom III, Level 4
6:15 pm
Simon, Jeremy M. The microbiota and interleukin-10 modulate ... POSTER
Genome structure, variation and function
3093F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Simon, Lukas SplicER: A novel analytic scheme for the ... POSTER
Bioinformatics and Genomic Technology
1707F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Simons, Yuval B. A population genetics perspective on ... POSTER
Evolutionary and Population Genetics
1512T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Simpson, Claire L. Whole Exome Sequencing of a Syrian Family ... POSTER
Clinical Genetics and Dysmorphology
2404W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Singer, Amihood Low levels of PAPP-A as a sole parameter ... POSTER
Prenatal, Perinatal and Reproductive Genetics
2123F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Singer, Tatjana Enhanced error correction and increased ... POSTER
Cancer Genetics
2706T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Singh, Abanish What next after GxE GWAS: A bioinformatic ... POSTER
Cardiovascular Genetics
573F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Singh, Himanshu N. n1n2TrackAnnotator: Software for detection ... POSTER
Bioinformatics and Genomic Technology
1743F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Singh, Kathryn E. Report of a patient with cystic fibrosis ... POSTER
Clinical Genetic Testing
2088F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Singh, Mable M. Effect of RANK/RANKL/OPG gene ... POSTER
Complex Traits and Polygenic Disorders
861T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Singh, Tarjinder A meta-analysis of >16,000 exomes ... PLATFORM
Session #58. Schizophrenia and Brain Development
295 Friday, October 9
Room 316, Level 3
5:30 pm
Singleton, Amanda A. WES as a first and second-tier test for ... POSTER
Cardiovascular Genetics
544W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Siniard, Ashley L. Exome sequencing identifies novel genes ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1152T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Sinke, Richard J. Rapid screening of severely ill newborns ... POSTER
Clinical Genetic Testing
2032W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Sirota, Marina Ancestry Matched Genome-wide Association ... PLATFORM
Session #34. The Real Next Gen: Reproductive Genetics
152 Thursday, October 8
Room 307, Level 3
6:15 pm
Sivakumar, Smruthy In silico validation of allelic imbalance ... POSTER
Bioinformatics and Genomic Technology
1690W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Sivasankaran, Sathesh Kumar DNA methylation profiling of brains of ... POSTER
Epigenetics
421T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Sivley, Robert Michael Analyzing Nonsynonymous SNPs in their ... POSTER
Evolutionary and Population Genetics
1533W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Skarp, Sini Stop gain mutation in the ZNF528 gene ... POSTER
Complex Traits and Polygenic Disorders
751F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Skidmore, Jennifer M. Brain region specific roles for CHD7, the ... POSTER
Development
2556W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Skotko, Brian G. A Predictive Model for Obstructive Sleep ... POSTER
Clinical Genetics and Dysmorphology
2362W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Skotte, Line A new method for ancestry specific ... POSTER
Statistical Genetics and Genetic Epidemiology
1286F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Slavin, Thomas P. How big of a role does TP53 play in ... POSTER
Cancer Genetics
2588T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Slavney, Andrea Strong evolutionary constraint on human ... POSTER
Evolutionary and Population Genetics
1538T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Slavotinek, Anne Congenital nephrosis, cerebral ... POSTER
Clinical Genetics and Dysmorphology
2430F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Sleegers, Kristel Identification of a founder mutation in ... PLATFORM
Session #28. Adult-onset Neuropsychiatric Disease
103 Thursday, October 8
Room 316, Level 3
3:30 pm
Sleiman, Patrick M. Common Variants in PTGES Associated with ... POSTER
Complex Traits and Polygenic Disorders
940F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Sloan, Jennifer L. Long term follow up of 17 patients with ... POSTER
Metabolic Disorders
2330F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Sloan-Heggen, Christina M. Genetic Diagnosis for Deafness in a Large ... POSTER
Clinical Genetic Testing
2065W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Small, Kerrin Adipose- and maternal- specific regulatory ... PLENARY
Session #65. Featured Plenary Abstract Session II
326 Saturday, October 10
Hall F, Level 1
9:55 am
Smaoui, Walid Genetic counseling and analysis plan in ... POSTER
Cancer Genetics
2749W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Smedley, Damian P. A phenotype-aware approach to the ... PLATFORM
Session #36. Methods Matter: Approaches for Genomic Analysis
168 Thursday, October 8
Room 316, Level 3
6:15 pm
Smeets, Hubert Mitochondrial DNA variation as a biomarker ... POSTER
Cancer Genetics
2663W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Smith, Caitlin J. Genetic Risk Score for Essential ... POSTER
Statistical Genetics and Genetic Epidemiology
1355F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Smith, Christopher S. Identification of a 2nd family with a ... POSTER
Molecular Basis of Mendelian Disorders
2928T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Smith, Cynthia L. Mouse Models of Human Disease: How mouse ... POSTER
Molecular Basis of Mendelian Disorders
2822W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Smith, Janice L. The importance of intragenic duplications ... POSTER
Cytogenetics
2535F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Smith, Katherine Rose The UK 100,000 Genomes Project. POSTER
Molecular Basis of Mendelian Disorders
2851F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Smith, Maureen A Large-Scale Survey Conducted by the ... PLATFORM
Session #53. The Real World: Translating Sequencing into the Clinic
251 Friday, October 9
Holiday Ballroom 4, 2nd Floor
2:15 pm
Smith, Moyra Informative results of exome sequencing in ... POSTER
Clinical Genetic Testing
2007F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Smith, Todd Overcoming Technical Barriers to ... POSTER
Genetics/Genomics Education
2238F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Snell, Russell G. Differentially expressed striatal ... POSTER
Molecular Basis of Mendelian Disorders
2816W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Snijders Blok, Lot Mutations in DDX3X are a common cause of ... PLATFORM
Session #57. New Thoughts about Neurodevelopment and Intellectual Disability
289 Friday, October 9
Room 309, Level 3
6:00 pm
Snyder, Matthew W. Cell-free DNA comprises an in vivo ... PLATFORM
Session #55. Making Connections: From DNA Looping to eQTLs and Tissue-specific Regulation
269 Friday, October 9
Ballroom III, Level 4
5:00 pm
Snyder, Michael P. Integrative Personal Omics Profiling ... PLATFORM
Session #59. Metabolic Traits and Disease: Discovery and Function
303 Friday, October 9
Room 318/321, Level 3
5:30 pm
Soave, David A generalized joint location-scale ... POSTER
Statistical Genetics and Genetic Epidemiology
1361F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Sobreira, Nara L M The Search for Mendelian Genes (MG) Using ... PLATFORM
Session #39. Mendel and Beyond: Looking through Genome Sequences
187 Thursday, October 8
Holiday Ballroom 4, 2nd Floor
5:00 pm
Sockell, Alexandra Adams A High-Throughput Platform for Functional ... POSTER
Statistical Genetics and Genetic Epidemiology
1349F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Soehn, Anne S. Uniparental disomy causing hereditary ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1156F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Sofer, Tamar Meta-analysis of genome-wide association ... POSTER
Statistical Genetics and Genetic Epidemiology
1307F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
SOHN, MINHWAN De Novo Assembly of the First Human ... POSTER
Bioinformatics and Genomic Technology
1842F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Soldano, Karen Mutational burden in candidate genes for ... POSTER
Complex Traits and Polygenic Disorders
1004W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Sollis, Elliot K. Identification and functional ... POSTER
Molecular Basis of Mendelian Disorders
2993W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Solomon, Ilana Best Practices in Genetic Cancer Risk ... POSTER
Genetics/Genomics Education
2217F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Son, Seohee Genetics of Alcohol Drinking Behaviors for ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1095T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Song, Ci Causal effect of blood plasminogen ... POSTER
Cardiovascular Genetics
584T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Song, Ji Yun Gross deletion of TSPAN12 detected in ... POSTER
Clinical Genetic Testing
1969W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Song, Minsun Using imputed genotype data in joint score ... POSTER
Statistical Genetics and Genetic Epidemiology
1315T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Song, Wei+ The Demographic Patterns Revealed by New ... POSTER
Evolutionary and Population Genetics
1464T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Song, Yeunjoo Sonic hedgehog signaling involvement in ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1187W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Sorant, Alexa J M Evaluation of stepwise and penalized ... POSTER
Statistical Genetics and Genetic Epidemiology
1352F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Sorte, Hanne A potential founder variant in RLTPR in 3 ... POSTER
Molecular Basis of Mendelian Disorders
2939W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Southgate, Laura The spectrum of NOTCH1 mutations in ... POSTER
Molecular Basis of Mendelian Disorders
2956F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Souza, Bruno B. Whole exome sequencing in a family with ... POSTER
Complex Traits and Polygenic Disorders
755W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Souza, Eduarda M.S.M.M. Mutation in TWIST2 gene and its relation ... POSTER
Clinical Genetics and Dysmorphology
2457F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Souzeau, Emmanuelle FOXC1 mutations and copy number variants ... POSTER
Molecular Basis of Mendelian Disorders
3008W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Spalding, Dylan Extending data access at the EGA. POSTER
Bioinformatics and Genomic Technology
1864W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Sparsø, Thomas Copy number variant conferred risk of ... POSTER
Genome structure, variation and function
3137F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Spear, Melissa L. A Genome-wide Association and Admixture ... POSTER
Pharmacogenetics
666W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Spinella, Jean-Francois SNooPer: a machine learning-based method ... POSTER
Bioinformatics and Genomic Technology
1800F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Spracklen, Cassandra N. Fine-mapping GWAS loci containing ... PLATFORM
Session #66. Computing Functional Variants
331 Saturday, October 10
Ballroom I, Level 4
11:30 am
Squire, Jeremy Application of fluorescence in situ ... POSTER
Cytogenetics
2527F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Squitti, R Non-ceruloplasmin-copper involvement in ... POSTER
Clinical Genetic Testing
1931T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Srinivasan, Maithreyan Isolation and processing of 1000s of ... POSTER
Bioinformatics and Genomic Technology
1906W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Sriretnakumar, Venuja Unique Psychiatric and Non-Psychiatric ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1164T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Srivastava, Rajeshwar Nath Association between single nucleotide ... POSTER
Clinical Genetic Testing
2056W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Srovnal, Josef Comparison of CNVs results in the group of ... POSTER
Cytogenetics
2509F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Stamoulis, Georgios Single cell allele specific expression ... POSTER
Genome structure, variation and function
3026T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Standish, Krisotpher A. Robust Heritability Estimation of Anti-TNF ... POSTER
Pharmacogenetics
675T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Stanfill, Ansley Association between serotonin transporter ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1053T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Stanford, Janet L. Epigenome-wide profiling of DNA ... POSTER
Cancer Genetics
2760T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Stankiewicz, Pawel Molecular mechanisms of formation of ... POSTER
Cytogenetics
2501F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Stanley, Susan E. The Genetics of Emphysema: Mutations in ... PLATFORM
Session #37. Clinical Genetics: From Sequence to Mechanism
176 Thursday, October 8
Room 318/321, Level 3
6:15 pm
Starita, Lea Massively parallel experimental analysis ... PLENARY
Session #4. Featured Plenary Abstract Session I
1 Wednesday, October 7
Hall F, Level 1
9:50 am
Stavropoulos, Demitri J. Diagnostic Utility of Whole Genome ... PLATFORM
Session #54. Changing Landscape of Genomic Testing
264 Friday, October 9
Ballroom I, Level 4
5:45 pm
Stein, Michelle Dissecting genetic and environmental ... POSTER
Complex Traits and Polygenic Disorders
869W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Stein-O'Brien, Genevieve Lauren Genome specific transcriptional signatures ... POSTER
Genome structure, variation and function
3074T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Steinberg, Julia Integrated molecular phenotyping in ... POSTER
Complex Traits and Polygenic Disorders
997F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Stessman, Holly A.F. The next wave of autism gene discovery by ... PLATFORM
Session #46. Hen's Teeth? Rare Variants and Common Disease
202 Friday, October 9
Ballroom I, Level 4
4:00 pm
Stevens, Christine R. The Helmsley Inflammatory Bowel Disease ... POSTER
Complex Traits and Polygenic Disorders
752W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Stewart, Fiona Repair of FFPE Extracted DNA Increases ... POSTER
Bioinformatics and Genomic Technology
1879W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Stobdan, Tsering Transcriptome profiling of hypoxia ... POSTER
Genome structure, variation and function
3092T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Stokowski, Renee Comprehensive Analysis of Clinical ... POSTER
Prenatal, Perinatal and Reproductive Genetics
2104T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Stoll, Claude Associated non diaphragmatic anomalies ... POSTER
Clinical Genetics and Dysmorphology
2409F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Stosser, Mary Beth Whole exome sequencing with simultaneous ... PLATFORM
Session #22. Neuropsychiatric Diseases of Childhood
62 Wednesday, October 7
Holiday Ballroom 4, 2nd Floor
3:15 pm
Strattan, J S. The ENCODE Analysis Pipelines: Tools for ... POSTER
Bioinformatics and Genomic Technology
1672W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Stödberg, Tommy Loss-of-function mutations in SLC12A5 ... PLATFORM
Session #22. Neuropsychiatric Diseases of Childhood
64 Wednesday, October 7
Holiday Ballroom 4, 2nd Floor
3:45 pm
Su, Bing OCA2 confers convergent skin lightening of ... POSTER
Evolutionary and Population Genetics
1518T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Su, Marcia Shu-Wei Human Mitochondrial Indel Discovery via de ... POSTER
Evolutionary and Population Genetics
1500T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Su, Ming-Wei Childhood Asthma Clusters Reveal Different ... POSTER
Bioinformatics and Genomic Technology
1770F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Su, Yu-Ru A unified powerful set-based test for ... POSTER
Statistical Genetics and Genetic Epidemiology
1262F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Subrahamanyam, Dantham Cell-free microRNA (miRNA) deregulation in ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1242T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Subramaniam, Meena Leveraging the diploid genome to increase ... POSTER
Statistical Genetics and Genetic Epidemiology
1295F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Sugden, Lauren A. Novel probabilistically interpretable ... POSTER
Evolutionary and Population Genetics
1534T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
SUGIER, Pierre-Emmanuel Integration of text mining and epistasis ... POSTER
Statistical Genetics and Genetic Epidemiology
1410W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Sujatha, M Screening for mutations and variants in ... POSTER
Clinical Genetic Testing
2021T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Sul, Jae H. An effective approach to identify rare ... POSTER
Statistical Genetics and Genetic Epidemiology
1378T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Sulovari, Arvis Genome-wide meta-analyses identify copy ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1096F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Sun, Nawei Transcriptome analysis of human induced ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1208W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Sun, Weimin Increased identification of CFTR mutations ... POSTER
Clinical Genetic Testing
2012T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Sun, Ying Progression of behavioral and CNS deficits ... POSTER
Metabolic Disorders
2268F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Sun, Youting Characterization of Common Maternal Copy ... POSTER
Genome structure, variation and function
3119F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Sunayana, Syed B. Elevated levels of oxidative DNA damage ... POSTER
Cardiovascular Genetics
568W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Sundseth, Scott S. Structural variants and obesity: Analysis ... POSTER
Genome structure, variation and function
3152T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Sung, Heejong Association of a single nucleotide ... POSTER
Cardiovascular Genetics
624F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
11:45am-12:45pm
Sung, Yun J. Meta-analysis of gene-smoking interactions ... PLATFORM
Session #60. The Ins and Outs of Blood Vessel Diseases
312 Friday, October 9
Holiday Ballroom 1, 2nd Floor
5:45 pm
Surampalli, Abhilasha Efficacy and Safety of Diazoxide Choline ... POSTER
Therapy for Genetic Disorders
472W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Surendran, Praveen Rare genetic variants inform on blood ... PLATFORM
Session #60. The Ins and Outs of Blood Vessel Diseases
311 Friday, October 9
Holiday Ballroom 1, 2nd Floor
5:30 pm
Suyundikov, Anvar A. Nonparametric tests for differential ... POSTER
Bioinformatics and Genomic Technology
1695F Friday, Oct. 9
Convention Center, Exhibit Hall, Level 1
10:45am-11:45am
Suzuki, Satoshi The mechanism of cleft palate after ... POSTER
Complex Traits and Polygenic Disorders
968W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Svidnicki, Paulo V. Exome sequencing analysis in a Primary ... POSTER
Complex Traits and Polygenic Disorders
738T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
12:00pm-1:00pm
Swaminathan, Bhairavi Variants in ELL2 influencing ... POSTER
Cancer Genetics
2623W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm
Syed, Hamzah PhASTESt, a user friendly tool for power ... POSTER
Bioinformatics and Genomic Technology
1673T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Symoens, Sofie Tissue specific mosaicism for a lethal ... POSTER
Molecular Basis of Mendelian Disorders
3021T Thursday, Oct. 8
Convention Center, Exhibit Hall, Level 1
11:00am-12:00pm
Szatkieiwcz, Jin A New Method for Detecting Associations ... POSTER
Statistical Genetics and Genetic Epidemiology
1260W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
6:00pm-7:00pm
Szpiech, Zachary A. Adaptation in global human populations has ... POSTER
Evolutionary and Population Genetics
1535W Wednesday, Oct. 7
Convention Center, Exhibit Hall, Level 1
5:00pm-6:00pm