Friday, October 20th

booth #1037

Join us at the booth to talk with members from the Broad Institute groups: 

FireCloud: Cloud-based platform enabling data & method sharing

10:30am - 11:30am

GATK: Genome Analysis ToolKit

10:30am - 11:30am

The Rare Genomes Project: Improving the ability to diagnose rare genetic conditions through a nationwide partnership with families

11:30am - 12:30pm

Index Swapping: Eliminating the impact

12:30pm - 1:30pm

Presentation Sessions 

Session #58: Data Sharing to Improve Genomic Variant Interpretation

Resolving variant interpretation differences in ClinVar between 43 clinical laboratories.

9:00am - 9:15am

S. Harrison

PgmNr 229

Room 230C - Level 2/Convention Center 


Session #64: Measuring Effects of Genetic Variants with High-Throughput Assays

Principles of gene regulation and noncoding variant function from hundreds of enhancer perturbations.

9:30am - 9:45am

J. Engreitz

PgmNr 255

Room 330C - Level 3/Convention Center


Session #62: New Paradigms for Regulatory Variant Contribution to Disease Risk

Pleiotropic noncoding regulatory elements are under purifying natural selection.

9:45am - 10:00am

D. Radke

PgmNr 248

Room 320 - Level 3/Convention Center 


Session #68: Blood Omics in Large Cohorts

Moderator of Session

10:15am - 11:15am


Room 230G - Level 2/Convention Center

Session #66: Splicing in Complex Traits

Global transcriptomic analysis of human hematopoietic stem cells identifies alternative splicing of HMGA2 in mediating stem cell properties.

10:30am - 10:45am 

M.H. Guo

PgmNr 262

Room 220F - Level 2/Convention Center 


Session #73: Transcriptomic Analysis of Genetic Variation and Disease

Leveraging molecular QTL to understand the genetic architecture of diseases and complex traits.

10:30am - 10:45am

F. Hormozdiari

PgmNr 290

Room 330C - Level 3/Convention Center 

Session #71: Autism
Rare variants conferring risk for autism and ADHD identified by whole exome sequencing of dried bloodspots.

10:45am - 11:00am
F.K. Satterstrom
PgmNr 283
Room 320 - Level 3/Convention Center
Session #73: Transcriptomic Analysis of Genetic Variation and Disease
Integrating transcriptome sequencing from Mendelian disease patients and healthy controls enhances genetic variant interpretation.
10:45am - 11:00am
B. Cummings
PgmNr 291
Room 330C - Level 3/Convention Center 


Session #68: Blood Omics in Large Cohorts

An imputation-based approach for matching unknown signals across untargeted metabolomics datasets.
11:00am - 11:15am
Y.H. Hsu

PgmNr 272
Room 230G - Level 2/Convention Center
Session #83: Using Controls from External Studies: Issues, Methods, and Successes
Leveraging external controls for powerful and accurate GWAS though model-based allele frequency estimates in ancestry-matched controls.
3:00pm - 3:30pm
D. Chen
Room 230G - Level 2/Convention Center
Session #78: Dosage-sensitive Sex-linked Genes: Role in Aneuploidy and Cancer
Sex differences in cancer and the role of the X/Y genes.
4:00pm - 4:30pm
A. Lane
Room 230C - Level 2/Convention Center
Session #86: ASHG Early Career Award Presentation and Lecture: Using Large Scale Genomic Databases to Improve Disease Variant Interpretation
Introduction by Mark J. Daly, awarded to Daniel MacAthur
5:15pm - 5:30pm
South Hall B - Level 1/Convention Center


Exhibit Hall, Level 1

11:30am - 1:30pm


Bioinformatics and Computational Approaches

Computational prediction and molecular validation of novel therapeutic targets for potent splicing modulators.

D. Gao

PgmNr 1209/F 

Towards translating genetic findings of polygenic diseases to personalized drug development: Proof-of-concept study for drug combinations to target multiple genes.

I.S. Vlachos

PgmNr 1227/F


Bayesian multivariate analysis of RNA sequencing data to identify brain-specific protein-protein interactions.

S. Muller

PgmNr 1233/F


Improving SNP array copy-number variant calling using site-specific variance models and windowed intensity normalization.

T. Poterba

PgmNr 1371/F


A framework for using protein structure specific features to elucidate ambiguous non-synonymous single nucleotide variants.

J.B. Jespersen

PgmNr 1395/F


Development and validation of computational approaches for GWAS-informed target gene identification.

S.K. McFarland

PgmNr 1446/F


Cancer Genetics

 Detection of signal regions in whole genome genotyping and sequencing association studies using scan statistics.

Z. Li

PgmNr 705/F


Cardiovascular Phenotypes

Genome-wide trans-ethnic meta-analysis for a novel sleep apnea endophenotype.

H. Wang

PgmNr 2697/F


Complex Traits and Polygenic Disorders

Rare coding variant association analysis for anthropometric traits using more than 25,000 exome-sequenced samples from ExAC.

S. Vedantam

PgmNr 2271/F


Genome-wide meta-analysis of macronutrient intake identifies two novel loci: Cohorts for heart and aging research in genomic epidemiology.

J. Merino

PgmNr 1800/F


Genome wide association in Peru demonstrates that progression to active tuberculosis is a polygenic and highly heritable trait.

S. Raychaudhuri

PgmNr 1938/F


PheWAS meta-analyses on bone microarchitecture phenotypes assessed by HR-pQCT and CRISPR/Cas9 gene-editing in zebrafish identify novel genetic risks of osteoporosis and fractures: The Bone Microarchitecture International Consortium (BoMIC).

Y.H. Hsu

PgmNr 1986/F


Alzheimer’s disease exome sequencing study in the Finnish population isolate.

M.I. Kurki

PgmNr 2010/F


Using genetic diversity from East Asia to improve the biological insight into schizophrenia.

H. Huang

PgmNr 2100/F


Meta-analysis of GWAS elucidates genetic architecture of dental caries.

D. Shungin

PgmNr 2202/F


Transferability of polygenic risk prediction across diverse and admixed populations.

A.R. Martin

PgmNr 2280/F


Genetic analysis of lipids in >300,000 participants in the Million Veteran Program.

D. Klarin

PgrmNR 1869/F


Epigenetics and Gene Regulation

Cis regulatory variation determines dynamic HLA-DQB1 allelic expression in response to T cell activation.

M. Gutierrez-Arcelus

PgmNr 1566/F


Annotating the regulatory genome of CD4+ T cells: Predicting active in vivo transcription factor binding sites.

T. Amariuta

PgmNr 1578/F 


Genome Structure and Function

MethylHiC reveals long-range genetic-epigenetic and epigenetic-epigenetic interactions within the same single molecule.


PgmNr 408/F


Molecular and Cytogenetic Diagnostics

Clinical variant reclassification and scaling support for the return of updated genetic results.

H.L. Rehm

PgmNr 2586/F


Prenatal, Perinatal, and Reproductive Genetics

Uncovering novel cytogenetic and molecular etiologies for infertility.

C. Redin

PgmNr 474/F


Prenatal NGS testing confounded by low levels of maternal cell contamination.

M. Lebo

PgmNr 495/F


 Statistical Genetics and Genetic Epidemiology

Genome-wide search for genetic loci perturbing gene co-expression networks in Alzheimer’s disease.

L. He

PgmNr 2817/F


Diagnostic changes leading to ASDs' prevalence increase altered the disorders' average genetic architecture.

E.M. Wigdor

PgmNr 2835/F


Identifying highly damaging missense mutations in over 10,000 developmental disorder trios using a regional missense constraint metric.

K.E. Samocha

PgmNr 2856/F


Statistical and population genetics of extreme phenotypes.

O. Soylemez

PgmNr 3012/F


Estimating cell-type-specific DNA methylation effects in the presence of cellular heterogeneity.

Y. Feng

PgmNr 2961/F


Statistical framework for biological interpretation and improvement of genetic association studies.

M. Artomov

PgmNr 2805/F


Meta-analysis of de novo variants from 9246 probands finds that genes previously associated with autism spectrum disorder harbor more de novo variants in probands with intellectual disability/developmental delay without autism.

J. Kosmicki

PgmNr 2844/F