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NIH

Revisiting the Missing Heritability of Complex Diseases, Ten Years On

Sheraton Silver Spring
8777 Georgia Ave.
Silver Spring, Maryland 20910

On May 1-2, 2018, the National Human Genome Research Institute (NHGRI) sponsored the NHGRI workshop, Revisiting the Missing Heritability of Complex Diseases, Ten Years On, in Silver Spring, Maryland.

Heritability
Figure: Feasibility of identifying genetic variants by risk allele frequency and strength of genetic effect (odds ratio). Nature 2009; 461:747-53.


The workshop objectives were to review scientific progress in the area of missing heritability and answer:

  1. What have we learned since 2008?
  2. What has been and/or will be the value of identifying the sources of missing heritability?
  3. What research can and/or should be pursued to determine these sources?
Executive Summary PDF file
Meeting Summary PDF file

Agenda

Tuesday, May 2, 2018
Time Topic Speaker(s)
8:30 a.m. Welcome, Introductions Peter Visscher
Teri Manolio
8:45 a.m. Workshop rationale and objectives Teri Manolio
Peter Visscher
9:00 a.m. Impact of missing heritability publication in Nature

Slides (PDF)
Slides (PowerPoint)
Orli Bahcall
9:10 a.m. Missing heritability circa 2009

Slides (PDF)
Slides (PowerPoint)
Teri Manolio
9:30 a.m. Quantifying the genetic architecture and heritability of complex traits: estimation and prediction

Slides (PDF)
Slides (PowerPoint)
Peter Visscher
9:50 a.m. Discussion Teri Manolio
10:30 a.m. Break
10:50 a.m. Quantifying (missing) heritability for common disease from GWAS data

Slides (PDF)
Slides (PowerPoint)
Naomi Wray
11:10 a.m. Rare Variants

Slides (PDF)
Slides (PowerPoint)
David Goldstein
11:30 a.m. Monogenic contributions to complex traits 

Slides (PDF)
Slides (PowerPoint)
 
Judy Cho
11:50 a.m. Discussion Peter Visscher
12:30 p.m. Lunch
1:20 p.m. Structural and multi-alleic variation

Slides (PDF)
Slides (PowerPoint)
Steve McCarroll
1:40 p.m. Omnigenic architecture of human complex traits

Slides (PDF)
Slides (PowerPoint)
Jonathan Pritchard
2:00 p.m. Epigenetic effects and gene expression

Slides (PDF)
Slides (PowerPoint)
Alexis Battle
2:20 p.m. Discussion Lon Cardon
3:00 p.m. Break
3:20 p.m. How sex-specific, environment-specific and genetic background-specific effects generate missing heritability

Slides (PDF)
Slides (PowerPoint)
Trudy Mackay
3:40 p.m. Gene-environment interaction

Slides (PDF)
Slides (PowerPoint)
David Hunter
4:00 p.m. Selection effects on complex trait architecture

Slides (PDF)
Slides (PowerPoint)
Guy Sella
4:20 p.m. Discussion Erin Ramos
4:50 p.m. Family Studies

Slides (PDF)
Slides (PowerPoint)
Lynn Jorde
5:10 p.m. Better phenotyping and use of biomarkers

Slides (PDF)
Slides (PowerPoint)
David Valle
5:30 p.m. Discussion Greg Gibson
6:00 p.m. Adjourn Day 1
Wednesday, May 2, 2018
Time Topic Speaker(s)
8:30 a.m. Mind the (diversity) gap: Contributions of diverse populations to common disease studies

Slides (PDF)
Slides (PowerPoint)
Lucia Hindorff
8:50 a.m. Missing heritability: Contributions from genomic studies in African ancestry populations

Slides (PDF)
Slides (PowerPoint)
Charles Rotimi
9:10 a.m. Contribution of diverse populations and expanded catalogues of human variation to our understanding of low frequency and rare variants

Slides (PDF)
Slides (PowerPoint)
Eimear Kenny
9:30 a.m. Discussion David Hunter
10:10 a.m. Break
10:30 a.m. Missing epistasis

Slides (PDF)
Slides (PowerPoint)
Andy Clark
10:50 a.m. Impact of indirect genetic effects on effect estimages, heritability estimates and missing heritability

Slides (PDF)
Augie Kong
11:10 a.m. Discussion Lynn Jorde
11:40 a.m. Lessons learned and next steps

Slides (PDF)
Slides (PowerPoint)
Teri Manolio
Peter Visscher
All
12:30 p.m. Adjourn

Last Updated: July 2, 2018