All of the presentations hyperlinked below include unpublished, proprietary information.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)