Thursday, October 19th

booth #1037

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

T2D: Type 2 Diabetes Portal

10:30am - 11:30am

Index Swapping: Eliminating the impact

10:30am - 11:30am

GATK: Genome Analysis ToolKit

11:30am - 12:30pm

GTEx: The Genotyping-Tissue Expression Project

1:00pm - 2:00pm

gnomAD: The Genome Aggregation Database

2:30pm - 3:30pm

FireCloud: Cloud-based platform enabling data & method sharing

3:00pm - 4:00pm

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

4:00pm - 5:00pm

Broad Genomics Clinical-grade Whole Genome Sequencing - At Scale to Support Research and Translation Workshop

Thursday, October 19th

12:30pm - 1:45pm

Lake Lucerne - Lobby Level

Hilton Orlando Hotel


In our Clinical-grade Whole Genome Sequencing workshop we will explore the challenges and opportunities of human whole genome sequencing and the application of this type of data to research, translational, and diagnostic users. Considerations for sample management, data generation, and pipeline analysis will be discussed. Three speakers with unique insights into the application of whole genome sequencing spanning research, translational medicine, and diagnostics will share case studies within their areas of expertise.

Presentation Sessions 

Session #32: Computational Methods for Causal Inference in Complex Traits

Identification transcriptomic and epigenetic mediators in Alzheimer's disease: Bayesian inference and causal mediation analysis of regulatory programs in GWAS statistics.

9:00am - 9:15am

Y. Park

PgmNr 131

Room 230G - Level 2/Convention Center


Session #34: Genetic Architecture of Neurological Traits

Understanding the genetic architecture of migraine using a collection of 1,214 families from Finland.

9:00am - 9:15am

P. Gormley

PgmNr 143

Room 310C - Level 3/Convention Center


Session #35: High Throughput Functional Analysis of Enhancers and Variants

High-resolution dissection of regulatory function for millions of predicted enhancers in human.

9:00am - 9:15am 

M. Kellis

PgmNr 149

Room 320 - Level 3/Convention Center


Session #36: Genetic Architecture of Rare Variants Across Diseases

Inferring compound heterozygotes from large-scale exome sequencing data.
9:15am - 9:30am

L.F. Francioli

PgmNr 156

Room 330A - Level 3/Convention Center


Session #36: Genetic Architecture of Rare Variants Across Diseases

Novel dual-indexing strategy enables high scale sample multiplexing and eliminates the impact of index-swapping on Illumina sequencers.

9:30am - 9:45am

M. Costello

PgmNr 157

Room 330A - Level 3/Convention Center


Session #30: Repeats and Rearrangements: New Methods, Genes, and Mechanisms in Neurological Disease

Dissecting the causal mechanism of X-linked dystonia-Parkinsonism by integrating genome and transcriptome assembly.

9:45am - 10:00am

R. Yadav

PgmNr 122

Room 220F - Level 2/Convention Center


Session #30: Repeats and Rearrangements: New Methods, Genes, and Mechanisms in Neurological Disease

Functional prioritization of Huntington's disease onset modifier genes in the HdhQ111/+ mouse.

10:00am - 10:15am

J. Loupe

PgmNr 123

Room 220F - Level 2/Convention Center 


Session #35: High Throughput Functional Analysis of Enhancers and Variants

Functional interrogation of common genetic variation uncovers regulators of hematopoiesis and therapeutic targets.

10:00am - 10:15am

S.K. Nandakumar

PgmNr 153

Room 320 - Level 3/Convention Center 


Session #32: Computational Methods for Causal Inference in Complex Traits

Distinguishing genetic correlation from causation across 37 diseases and complex traits.

10:15am - 10:30am

L.J. O'Connor

PgmNr 136 

Room 230G - Level 2/Convention Center


Session #41: Natural Selection on Human Phenotypes

Identifying complex traits under polygenic selection in the UK Biobank. 

11:00am – 11:15am

X. Liu

PgmNr 185

Room 230G - Level 2/Convention Center


Session #44: Polygenic Risk Scores and Genetic Correlation in Complex Disease

Overtransmission of polygenic risk alleles for migraines in 2,048 Finnish trios.

11:15am - 11:30am

K. Veerapen

PgmNr 204

Room 320 - Level 3/Convention Center


Session #41: Natural Selection on Human Phenotypes

High-throughput inference of pairwise coalescent times identifies signals of selection and enriched disease heritability.

11:30am - 11:45am 

P. Palamara

PgmNr 187

Room 230G - Level 2/Convention Center


Session #39: Advances in the Genetics of Autoimmune Disease

Using exome sequencing to expand the genetic architecture of IBD.

12:00pm - 12:15pm

M. Daly

PgmNr 177

Room 220F - Level 2/Convention Center


Session #38: Neuromuscular Disease

Recessive mutations in the fusiogenic protein myomaker cause Carey-Fineman-Ziter syndrome.

12:15pm - 12:30pm 

S.A. Di Gioia

PgmNr 172

Room 220B - Level 2/Convention Center


Session #42: Consumers and Health Care Providers: Perspectives of Genetic Technology

Participant characteristics, motivations, healthcare utilization, and perceived utility in ostensibly healthy adults undergoing genome sequencing: Early findings from the PeopleSeq Consortium.

12:15pm - 12:30pm

E.S. Zoltick

PgmNr 196

Room 310A - Level 3/Convention Center


Session #48: Clinical Spotlight: VUS-busters: Cutting-edge Strategies for Interpreting Variants in Clinical and Research Sequencing

Power of the people: Using large-scale, diverse reference databases to improve variant interpretation.

4:15pm – 4:45pm

Anne O’Donnell

Room 330A – Level 3/Convention Center


Session #55: Solving the Unsolved: Systems to Facilitate the Discovery of Novel Rare Disease Genes from Genomic Sequencing

Moderator of Session

4:15pm - 6:15pm

H. Rehm

Room 310C - Level 3/Convention Center


Session #49: Data Sharing, Analysis, and Tools to Catalyze Translation from Genomic to Clinical Knowledge

Moderators of Session

4:15pm - 6:15pm

B. Neale; N. Burt

Room 330C – Level 3/Convention Center


Serving genetic data and tools to the world.

4:15pm – 4:45pm

Jason Flannick

Room 330C – Level 3/Convention Center


Converting sequence data from over 140,000 people into rare disease diagnoses.

5:15pm – 5:45pm

Daniel MacArthur

Room 330C – Level 3/Convention Center


Session #53: Novel Insights into Human Brain Evolution from Advanced Genomics

Variation in gene expression across the human neocortex is associated with brain network organization.

5:15pm – 5:45pm

F. Krienen

Room 230G – Level 2/Convention Center


Exhibit Hall, Level 1

2:00pm - 3:00pm


Bioinformatics and Computational Approaches

Hail: Scaling statistical genetics to tens of thousands of whole genomes.

C. Seed

PgmNr 1373/T 


A unified web platform for network-based analyses of genomic data.

T. Li

PgmNr 1397/T 


Cardiovascular Phenotypes

Mendelian randomization to identify causal risk factors for atrial fibrillation.

L. Weng

PgmNr 2669/T


Partitioning genome-wide summary statistics improves polygenic risk prediction.

S. Chun

PgmNr 2717/T


Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.

P.B. Agrawal 

PgmNr 2759/T


Complex Traits and Polygenic Disorders

Genetic evidence that early carbohydrate-stimulated insulin secretion affects accumulation and distribution of adiposity.

C.M. Astley

PgmNr 1847/T


Complete gene knockouts in autism spectrum disorder.

T.W. Yu

PgmNr 2087/T


Epigenetics and Gene Regulation

A multi-tissue transcriptome association analysis of BMI provides a whole-body view into the impacts of adiposity.

T. Tukiainen

PgmNr 1553/T 


Transcriptional profiling of long noncoding RNA in PTSD patients reveals a potential early biomarker of trauma-induced alterations in the acute phase after exposure.

G. Guffanti

PgmNr 1613/T


Evolution and Population Genetics

Substantial fraction of genes under recessive selection illuminates a missing component of human variation in population genetics and model organism studies of human disease.

D.J. Balick

PgmNr 2351/T


Prenatal, Perinatal, and Reproductive Genetics

A genomic autopsy of perinatal death: Diagnosis and discovery by whole exome and whole genome sequencing.

A.B. Byrne

PgmNr 461/T


Statistical Genetics and Genetic Epidemiology

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types.

H.K. Finucane

PgmNr 2951/T


Exhibit Hall, Level 1

3:00pm - 4:00pm


Bioinformatics and Computational Approaches


Multi-sample isoform quantification from RNA-seq for known and novel transcripts.

A.E. Byrnes

PgmNr 1334/T



Cancer Genetics

GATK4 adds germline and somatic copy number variant plus somatic SNV and indel calling.

S.H. Lee

PgmNr 758/T


Cardiovascular Phenotypes

Control of ethnically-stratified vascular risk factors in modeling of intracerebral hemorrhage.

S. Marini

PgmNr 2720/T


Complex Traits and Polygenic Disorders

Assessment of the impact of variants in constrained non-essential splice sites in fifty-two thousand type 2 diabetes cases and controls.

J.M. Mercader

PgmNr 1796/T


An analysis of Crohn’s disease genes in the French-Canadian population.

B.E. Avila

PgmNr 1964/T


Initial results from the meta-analysis of the whole-exomes of 20,000 schizophrenia cases and 45,000 controls.

T. Singh

PgmNr 2138/T


Novel Alzheimer disease loci identified in subsets of whole exome sequencing data stratified by APOE genotype.

Y. Ma

PgmNr 2012/T


Epigenetics and Gene Regulation

Furthering the GTEx project legacy through the GTEx biospecimen resource.

E. Gelfand

PgmNr 1670/T


Discover regulatory grammar across 127 human cell types using tree-based recurrent neural network.

Z. Zhang

PgmNr 1640/T


Genetic Counseling, ELSI, Education, and Health Services Research

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

H. Brooks

PgmNr 554/T

Mendelian Phenotypes

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease-gene discovery.

A. Haghighi

PgmNr 1172/T


Statistical Genetics and Genetic Epidemiology

Investigating the underlying genetic basis of the co-occurence of epilepsy and psychiatric disorders.

H.O. Heyne

PgmNr 2822/T 


Genetic validation of bipolar disorder identified by automated phenotyping using electronic health records.

C. Chen

PgmNr 2846/T

Modeling functional enrichment improves polygenic prediction accuracy in UK Biobank and 23andMe data sets.

C. Marquez-Luna

PgmNr 2948/T