NHLBI/NHGRI Exome Project and NHLBI GO ESP Joint In-Person Meeting April 6-7, 2010

All of the presentations hyperlinked below include unpublished, proprietary information. No information from any of the presentations should be used without explicit prior consent of the appropriate investigator(s).

Tuesday, April 6

Education Sessions

Session I: Next-Gen Sequence Production: What Happens to Your Samples?

Sample Receipt/QC, Targeting and Sequencing
Emily Turner (emilyt@uw.edu) - SeattleGO (ppt) (pdf)
Carrie Sougnez (carrie@broad.mit.edu) and Sheila Fisher (sfisher@broadinstitute.org) - BroadGO

Session II: Sequence Data Assembly and Variant Calling: What’s the Definition? How Is It Done? Issues? How Do You Know When You’re Close and/or How Do You Know What You’re Missing?

Analysis Pipeline and Quality Assessment
Josh Smith (jds66@uw.edu) - SeattleGO (ppt) (pdf)
Mark Depristo (Mark@depristo.com) - BroadGO (pptx) (pdf)

Data Comparison Between Centers
Kiran Giramella (Kiran@broadinstitute.org) - BroadGO (pptx) (pdf)

Development of New Analysis Methods
Phil Green (phg@uw.edu) - SeattleGO (ppt) (pdf)

Session III: Statistical Analysis of Rare Variants: Approaches and Issues

Gonçalo Abecasis (goncalo@umich.edu) - BroadGO - Moderator
--Discussion Topics (pdf)
--Combining GWAS and Exome Re-sequencing Data (pdf)
Carlos Bustamante (cdb28@cornell.edu) - SeattleGO - Admixture Analysis (pdf)
Suzanne Leal (suzannemleal@gmail.com) - SeattleGO - Rare Variant Detection (pdf)
Shamil Sunyaev (ssunyaev@rics.bwh.harvard.edu) - BroadGO - PolyPhen and Bioinformatics Approaches (ppt) (pdf)

NHLBI/NHGRI Exome Project

Overview of the NHGRI/NHLBI Exome Project
Debbie Nickerson (debnick@uw.edu), Chair, Steering Committee (ppt) (pdf)

Emerging Exome Results from the NHGRI/NHLBI Exome Project
Gail Jarvik (pair@uw.edu), University of Washington (ppt) (pdf)
Ray Hershberger (RHershberger@med.miami.edu), University of Miami (ppt) (pdf)
Sekar Kathiresan (skathiresan@partners.org), Harvard Medical School (ppt) (pdf)
Carole Ober (c-ober@bsd.uchicago.edu), University of Chicago (ppt)

ELSI: Return/Reportability of Results
Holly Tabor (holly.tabor@seattlechildrens.org) - LungGO (ppt) (pdf)

Wednesday, April 7

NIH Sequencing Projects

New Technologies
George Church (gmc@harvard.edu) - Harvard Medical School (ppt) (pdf)

1000 Genomes Project and Diabetes GO Project
David Altshuler (altshuler@molbio.mgh.harvard.edu) - The Broad Institute (pptx) (pdf)
Gonçalo Abecasis (goncalo@umich.edu) - University of Michigan (pdf)

Cancer Genome Project
Tim Graubert (graubert@medicine.wustl.edu) - Washington University School of Medicine (pptx) (pdf)

Preliminary Analysis of First NHLBI GO ESP Exomes

Lung Phenotype Samples
Mike Bamshad (mbamshad@uw.edu) and Mary Emond (emond@uw.edu) - LungGO

Early MI Phenotype Samples
Sekar Kathiresan (skathiresan@partners.org) - BroadGO (ppt) (pdf)

Steering Committee Meeting (three representatives per ESP group; see meeting roster)

Phenotype and Harmonization Working Group: Samples for Second-Phase Sequencing
Chris Carlson (csc47@uw.edu) - WHISP (ppt) (pdf)

Replication and Follow Up Working Group
Debbie Nickerson (debnick@uw.edu) - SeattleGO (ppt) (pdf)

Building on GWAS for HLB-disease: the US CHARGE Consortium
Eric Boerwinkle (Eric.Boerwinkle@uth.tmc.edu) - CHARGE-S GO (pptx) (pdf)