Wednesday, October 18th

booth #1037

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

HAIL: Open-source, scalable framework for exploring and analyzing genomic data

11:30am - 12:30pm

GTEx: The Genotyping-Tissue Expression Project

12:30pm - 1:30pm

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

1:30pm - 2:30pm

FireCloud: Cloud-based platform enabling data & method sharing

3:00pm - 4:00pm

Interactive Invited Workshop (SOLD OUT)

7:15am - 8:45am

Overview and Interpretation of GTEx Resources: eQTLs and Gene Expression

Identifying genetic variation that regulates gene expression remains challenging because regulatory motifs are found both local and distal to their target gene, and are difficult to identify based on sequence alone. Moreover, gene expression and its regulation vary greatly among tissues and cell types, many of which are difficult to sample. The Genotype-Tissue Expression (GTEx) project provides an unprecedented breadth of transcriptomic (RNA-seq) and genetic (WGS and WES) data from >50 non-diseased human tissues across ~960 donors. This interactive workshop will showcase the GTEx data resource and demonstrate how to access, interpret, and visualize the various types of data produced, using downloadable files, the GTEx Portal, and API. Given the complexity of interpreting genetic associations with gene expression, we will review computing expression quantitative trait loci (eQTLs), detecting independent signals at a given locus, and narrowing down a high-confidence set of causal variants per eQTL region. We will demonstrate how to run GTEx analysis pipelines on the FireCloud platform to enable integration of users’ own datasets with this resource. Through case studies (e.g., using eQTLs to interpret genetic associations with complex traits; interpreting RNA-seq expression data across tissues), we will also discuss best practices and caveats for using GTEx data.

By invitation or pre-registration only

Presentation Sessions 

Session #11: Therapeutic Advances in Mendelian Disease

Shedding light into voltage-gated sodium channel associated neurodevelopmental disorders.

9:00am - 9:15am

D. Lal

PgmNr 35

Room 310C - Level 3/Convention Center


Session #10: Disease Gene Discovery Strategies

New strategies for analyzing exomes from patients with rare and unknown disorders.

9:15am - 9:30am

K. Schmitz-Abe

PgmNr 30

Room 310A - Level 3/Convention Center


Session #21: Leveraging Human Knockouts to Understand Biology

Moderator of the session

11:00am - 12:30pm

L. Francioli

Room 320 - Level 3/Convention Center


Session #21: Leveraging Human Knockouts to Understand Biology

The spectrum of loss of function intolerance in the human genome.

11:00am - 11:15am

K.J. Karczewski

PgmNr 95

Room 320 - Level 3/Convention Center


Session #17: Advances in Association Analysis

Quantifying directional effects of transcription factor binding on polygenic disease risk using GWAS summary statistics.

11:15am - 11:30am

Y. Reshef

PgmNr 72

Room 230C - Level 2/Convention Center


Session #21: Leveraging Human Knockouts to Understand Biology

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum.

11:30am - 11:45am

A. Ganna

PgmNr 97

Room 320 - Level 3/Convention Center


Session #17: Advances in Association Analysis

Rare variant association in non-coding sequence: An analysis of deep coverage whole genome sequences and blood lipids in 16,324 individuals.

12:00pm - 12:15pm

P. Natarajan

PgmNr 75

Room 230C - Level 2/Convention Center


Session #24: ASHG William Allan Award Presentation and Lecture: Human Genetics: A Letter From Iceland

Introduction by Mark Daly

4:15pm – 4:30pm

South Hall B - Level 1/Convention Center 


Exhibit Hall, Level 1

2:00pm - 3:00pm


Bioinformatics and Computational Approaches

A Bayesian network approach for de novo variant calling and its application on rare Mendelian disorders.

A. Toth-Petroczy

PgmNr 1249/W


Improving quality of variant calling by integrating whole genome and whole exome sequencing from same samples.


PgmNr 1327/W


Computational pipeline for single nucleus RNA sequencing and its application to human skeletal myotubes.

Q. Wang

PgmNr 3021/W


Cancer Genetics

A genome-wide association study (GWAS) implicates NR2F2 in lymphangioleiomyomatosis pathogenesis.

K. Giannikou

PgmNr 829/W


Epigenetics and Gene Regulation

Annotations that capture tissue-specific transcription factor binding explain a large fraction of disease heritability.

B. van de Geijn

PgmNr 1579/W


Low correlation observed between DNA methylation in blood measured between a majority of CpG sites measured on both Illumina 450K and EPIC BeadChips.

M.W. Logue

PgmNr 1657/W


Evolution and Population Genetics

Partitioning heritability of low-frequency variants reveals relative strength of negative selection across functional annotations.

S. Gazal

PgmNr 2347/W


Statistical Genetics and Genetic Epidemiology

Convergent evidence for LRP2BP in resilience to Alzheimer’s disease.

D. Felsky

PgmNr 2815/W


Quantification of MAF-dependent architectures in 14 UK Biobank traits reveals strength of genome-wide negative selection.

A. Schoech

PgmNr 2953/W


Estimating genetic correlations in functionally annotated regions using genome-wide summary association statistics.

D.L. Kassler

PgmNr 3001/W


Testing for colocalization of causal variants underlying obstructive sleep apnea and immune-related phenotypes.

S. Akle

PgmNr 2803/W


Exhibit Hall, Level 1

3:00pm - 4:00pm 


Bioinformatics and Computational Approaches

The Type 2 Diabetes Knowledge Portal: Clearing a path from genetic associations to disease biology.

B. Alexander

PgmNr 1186/W


An unbiased, genetic-data-driven benchmarking strategy for gene and variant prioritization algorithms

R. Fine

PgmNr 1204/W


Novel high-resolution multi-ethnic HLA imputation reference panels constructed based on high-coverage whole-genome sequencing data.

Y. Luo

PgmNr 1294/W


Uncovering the genetic architecture of complex traits: A Kalman filter approach.

D. Palmer

PgmNr 1390/W


Genoppi: A web application for interactive integration of experimental proteomics results with genetic datasets.

A. Kim

PgmNr 1396/W


Complex Traits and Polygenic Disorders

Fine-mapping fasting glucose and fasting insulin loci with whole genome sequence data from the Trans-Omics for Precision Medicine (TOPMed) Program.

A. Manning

PgmNr 1822/W


Leveraging large-scale exome sequencing data from >5,000 individuals to elucidate the genetic influences of amyotrophic lateral sclerosis.

S.M. Farhan

PgmNr 2044/W


Finland, combining the population isolate structure with nationwide health care data for gene discovery.

A. Palotie

PgmNr 2230/W


Data-driven approach to dietary phenotypes for nutrigenomics in UK Biobank.

J.B. Cole

PgmNr 2266/W


Role of rare variants in progression form latent to active tuberculosis in Peruvian population.

S. Asgari

PgmNr 1936/W


Developmental Genetics and Gene Function

Modeling limb-girdle muscular dystrophy with in vitro human skeletal myotubes.

J.L. Marshall

PgmNr 1738/W


Mendelian Phenotypes

Naturally occurring human genetic variation suggests LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease.

I.M. Armean

PgmNr 1024/W


Statistical Genetics and Genetic Epidemiology

Finding genomic variants regulating the exon-skipping.

R. Liu

PgmNr 2800/W

Broad Institute Reception

Cuba Libre Restaurant

7:00pm - 10:00pm

Join us for a fun filled evening to celebrate the first day of ASHG 2017 with refreshments, ambiance, and good company!