Wednesday, October 17th


2:00 PM - 3:00 PM

PgmNr 1113/W: Predicting pathogenicity and functional effects of missense variants in voltage-gated sodium and calcium channels.

Henrike Heyne


PgmNr 1179/W: The first report on a patient with OGT catalytic core mutation causing O-GlcNAc transferase defect.

Katrin Ounap


PgmNr 1317/W: Genomic sequencing reveals previously unrecognized phenotypes in a high proportion of those with unanticipated monogenic disease risk.

Matthew Lebo


PgmNr 1323/W: The Rare Genomes Project: Improving our ability to diagnose rare genetic conditions through a nationwide partnership with families.

Clara Williamson


PgmNr 1353/W: CRISPResso2: Characterization of repair outcomes and allele specific analysis from CRISPR nuclease and base editor genome editing.

Kendell Clement


PgmNr 1581/W: Create a reproducible paper with FireCloud.

Tiffany Miller


PgmNr 1605/W: Structural variation detection and validation pipelines for whole genome sequencing association studies and diagnostic testing.

Harold Wang


PgmNr 1863/W: Cis regulatory variation determines dynamic HLA-DQB1 allelic expression in response to T cell activation at RNA and protein levels.

Maria Gutierrez-Arcelus


PgmNr 2373/W: Whole exome sequencing in epilepsy reveals significant gene burden of ultra-rare deleterious variants.

Yen-Chen Anne Feng


PgmNr 3195/W: Genetic association of arterial stiffness index with incident coronary artery disease and congestive heart failure.

Seyedeh Zekavat


PgmNr 3297/W: Contributing to an inflammatory bowel disease meta-analysis with 8000 non-European whole genomes.

Brandon Avila


PgmNr 3309/W: Identifying transcriptional and epigenetic mechanisms associated with genetic risk for inflammatory bowel disease using causal mediation analysis.

Khoi Nguyen


PgmNr 993/W: Distinguishing between monogenic and polygenic inheritance of extreme phenotype: Quantifying the value of family history in cases of extreme LDL-C.

Onuralp Soylemez



3:00 PM - 4:00 PM


PPgmNr 1320/W: Identification of protein features associated with Mendelian disease variants.

Sumaiya Iqbal


PgmNr 1368/W: Computational prediction and molecular validation of novel therapeutic targets for potent splicing modulators.

Dadi Gao


PgmNr 1464/W: Quality control for 141,456 human exomes and genomes in the Genome Aggregation Database: An open-source, high-throughput computational workflow.

Grace Tiao


PgmNr 1566/W: Benchmarker: An unbiased, genetic-data-driven benchmarking strategy for gene and variant prioritization algorithms using LD score regression.

Rebecca Fine


PgmNr 1644/W: Precise common and rare germline CNV calling with GATK.

Andrey Smirnov


PgmNr 1716/W: Functional dissection of common genetic variation in the autoimmune-associated TNFAIP3 locus.

John Ray


PgmNr 1800/W: A quarter century of sequencing: Lessons learned and best practices for high quality genome sequencing at any scale.

Maura Costello


PgmNr 2124/W: Uncovering the genetic architecture of data-driven dietary habits in UK Biobank.

Joanne Cole


PgmNr 2202/W: Single nuclei RNA-seq to decipher hypothalamic transcriptional response to chronic topiramate administration.

Kathy Ushakov


PgmNr 2286/W: Primary sclerosing cholangitis, a common comorbidity in inflammatory bowel disease.

Jukka Koskela


PgmNr 2316/W: Large scale meta-analysis of genome-wide association studies for height in multiple ancestries.

Sailaja Vedantam


PgmNr 2442/W: Population-scale analysis of copy number variation from whole genome sequencing.

Robert Handsaker


PgmNr 2502/W: Characterization of the genetic architecture of intellectual disability in northern Finland.

Lea Urpa


PgmNr 2640/W: Investigating the impact of smoking on mental and physical health outcomes using genome-wide data.

Chia-Yen Chen


PgmNr 3420/W: Universal Control Repository: A practical framework for aggregating control genotype data.

Danfeng Chen


PgmNr 3432/W: Reconciling S-LDSC and LDAK models and functional enrichment estimates. Alkes Price


PgmNr 3474/W: High dimensional stratified LD score regression.

Ran Cui


PgmNr 394/W: Detecting inversion polymorphisms at population scale with linked read sequencing.

Christopher Whelan


Thursday October 18th, 2018


2:00 PM - 3:00 PM

PgmNr 1195/T: Homozygous recessive mutations in the myogenic factor MYF5 cause a novel syndrome characterized by external ophthalmoplegia, rib, and vertebral anomalies.

Silvio Alessandro Di Gioia


PgmNr 1411/T: Scaling rare disease genomics to tens of thousands of samples.

Ben Weisburd


PgmNr 1477/T: Preparing short read sequencing data for variant filtration and calling with deep learning.

Sam Friedman


PgmNr 1489/T: GATK-SV: Integrating Structural Variation calling in GATK.

Valentin Ruano-Rubio


PgmNr 1615/T: DeepSweep: A novel neural model to localize signals of positive selection. Sager Gosai


PgmNr 1669/T: IGV-Web: An application for viewing and sharing genomic datasets.

James Robinson


PgmNr 1783/T: Supporting single-cell RNA-seq at scale in the genomics platform at the Broad Institute.

Cole Walsh


PgmNr 1801/T: CLIA whole genome sequencing and genotyping data at scale.

Tom Howd


PgmNr 1969/T: Validation of cis-regulatory transcript variants using fine-mapping and CRISPR/Cas9 genome editing.

Margot Brandt


PgmNr 2155/T: Integration of genome-wide polygenic risk scores from type 2 diabetes and related glycemic traits improves the prediction of the disease in Partners Healthcare Biobank participants.

Josep Mercader


PgmNr 2197/T: Association of longitudinal body mass index (BMI) trajectories with genetic risk score in children with severe early childhood obesity (SECO).

Vidhu Thaker


PgmNr 2257/T: Using in vivo eQTL interactions to identify the genetic drivers of variation in the transcriptomic response to sepsis.

Emma Davenport


PgmNr 2389/T: Enrichment of rare protein truncating variants in patients with amyotrophic lateral sclerosis.

Sali Farhan


PgmNr 2407/T: Understanding genetic regulatory mechanisms of neurodegenerative and psychiatric disorders by cell-type specific deconvolution of gene expression profile in brain.

Liang He


PgmNr 2575/T: Disease individuals with bi-allelic recessive mutations, also show secondary-variant burden in disease-relevant biological modules.

Maria Kousi


PgmNr 3193/T: Genetic association studies of small vessel ischemic stroke stratified by APOE ε2/3/4 genotype.

Jaeyoon Chung


PgmNr 3367/T: CNV association with neurodevelopmental phenotypes in a Finnish population cohort.

Elmo Saarentaus


3:00 PM - 4:00 PM


PgmNr 1198/T: Diagnosis of congenital myopathies through exome sequencing and a collaborative analysis platform.

Zaheer Valivullah


PgmNr 1402/T: Mitochondrial variant calling in over 15,000 individuals in the genome aggregation database (gnomAD).

Kristen Laricchia


PgmNr 1774/T: Returning unanticipated genomic results in a hospital-based research biobank.

Robert Green


PgmNr 2008/T: High-throughput untranslated region engineering and screening.

Jicong Cao


PgmNr 2134/T: Insights into the genetic determinants of diabetic kidney disease (DKD).

Rany Salem


PgmNr 2152/T: Leveraging T2D specific omics data in rare variant association analysis in TOPMed.

Timothy Majarian


PgmNr 2236/T: Epigenomic dissection of multiple auto-immune disorders using H3K27ac ChIP-seq across 200 individuals.

Lei Hou


PgmNr 2254/T: Molecular prediction in inflammatory bowel disease.

Ruize Liu


PgmNr 2488/T: Genetic associations between psychiatric disorder risk and phenotypic factors in UK Biobank.

Rebecca Shafee


PgmNr 3046/T: Scaling the resolution of sequence variant classification discrepancies in ClinVar.

Steven Harrison


PgmNr 3106/T: Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes.

Christopher Anderson


PgmNr 3538/T: A method to estimate the sampling variance of genotype principal components and residual confounding due to incomplete capture of population structure.

Christina Chen


PgmNr 3562/T: Genome-wide priors for gene prioritization.

Elle Weeks


PgmNr 688/T: Functional network-based mapping identifies disease genes in polygenic loci unresolved by fine-mapping of cutaneous melanoma GWAS.

Mykyta Artomov



Friday, October 19, 2018


2:00 PM - 3:00 PM

PgmNr 1139/F: Whole exome analyses discover risk factors for familial dystonia. Rachita Yadav


PgmNr 1541/F: Machine learning and network topological approaches to predict the pathogenicity of loss of function mutations.

Daniel Rhodes


PgmNr 1607/F: A high-throughput computational quality control pipeline for exome and genome data for rare disease studies.

Michael Wilson


PgmNr 1637/F: Exome CNV calling improves diagnostic yield in rare disease families.

Katherine Chao


PgmNr 1661/F: Design and analysis of FACS-based CRISPR screens.

Carl de Boer


PgmNr 1967/F: Estimating cell type abundance in GTEx enables insights into cellular mechanisms and origins of eQTLs.

Francois Aguet


PgmNr 2177/F: Meta-analysis of genome-wide association studies for body fat distribution in 694,649 individuals of European ancestry.

Sara Pulit


PgmNr 2189/F: Polygenic susceptibility underlies trajectories of weight and severe obesity from birth to adulthood.

Mark Chaffin


PgmNr 2363/F: Neuropathological correlates and genetic architecture of microglial activation in elderly human brain.

Daniel Felsky


PgmNr 2699/F: Low-frequency variant functional architectures reveal strength of negative selection across coding and non-coding annotations.

Steven Gazal


PgmNr 2741/F: Landscape of multi-nucleotide variants across 123,136 human exomes.

Qingbo Wang


PgmNr 3185/F: Heritability of atrial fibrillation across a spectrum of clinical risk factors.

Lu-Chen Weng


PgmNr 3401/F: Leveraging functional enrichment improves polygenic prediction accuracy.

Carla Marquez Luna


PgmNr 3527/F: FinnGen: Towards a comprehensive catalogue of genomes and major health events for 500,000 Finnish residents.

Juha Karjalainen


PgmNr 441/F: Patterns and mechanisms defining tissue specificity of human regulatory variation.

Stephane Castel


PgmNr 887/F: Detecting cancer vulnerabilities through gene networks under purifying selection in 4,700 cancer genomes.

Anika Gupta


PgmNr 917/F: Deep targeted duplex sequencing for low allele fraction variant detection.

Matthew DeFelice

3:00 PM - 4:00 PM


PgmNr 1628/F: Sharing aggregate genomic data on the web: re-engineering and extending the gnomAD browser.

Matthew Solomonson


PgmNr 1748/F: Scaling up genome engineering for modeling reciprocal genomic disorders.

Xander Nuttle


PgmNr 1796/F: A re-designed and unified workflow for exome and custom targeted panels developed to support a high throughput clinical research environment.

Erika Roth


PgmNr 1856/F: Genetic regulation of FCGR2A expression and its implications for immunity and disease.

Johanna Dahlqvist


PgmNr 2264/F: Using ~20,000 public whole genomes to build reference panels for fine-mapping HLA effects in multi-ethnic cohorts.

Yang Luo


PgmNr 2306/F: Genetic studies of body proportion (sitting height ratio) shed light on the recent evolution of human skeletal growth.

Eric Bartell


PgmNr 2570/F: Contribution of transposable elements to disease and complex trait heritability.

Farhad Hormozdiari


PgmNr 2630/F: Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.

Amit Khera


PgmNr 2726/F: Genome-wide identification and characterization of non-coding human specific deletions.

James Xue


PgmNr 2996/F: Rapid turnaround whole exome sequencing for critically ill neonates.

Cynthia Gubbels


PgmNr 3158/F: Association between titin loss-of-function variants and early-onset atrial fibrillation.

Seung Hoan Choi


PgmNr 3344/F: Genome-wide association analysis of excessive daytime sleepiness in the UK Biobank identifies 42 loci.

Richa Saxena


PgmNr 3368/F: Excess of rare, inherited variation in children with developmental disorders.

Kaitlin Samocha


PgmNr 3404/F: Estimating the autocorrelation of causal SNP effect size magnitudes as a function of genomic distance.

Armin Schoech


PgmNr 3470/F: Leveraging allele-specific expression to refine fine-mapping for eQTL studies.

Jennifer Zou


PgmNr 3512/F: Reliable heritability estimation in admixed populations using covariate-adjusted LD score regression.

Xinyi Li


PgmNr 3524/F: Leveraging genome-wide significant loci to increase the power of S-LDSC to detect enrichment.

Katherine Tashman


PgmNr 646/F: Temporal differences in concerns, motivations, and attitudes regarding predispositional genome sequencing among healthy adults: Findings from the PeopleSeq Consortium.

Emilie Zoltick