NHLBI/NHGRI Exome Project and NHLBI GO Exome Sequencing Project (ESP) Joint In-Person Meeting October 13-14, 2010

Many of the presentations hyperlinked below include unpublished, proprietary information.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

Wednesday, October 13

Population Genetics - Preliminary Analysis of 1,000 ESP Exomes, Presentation and Discussion

Josh Akey (akeyj@uw.edu), SeattleGO (ppt)

Autism Consortium

Mark Daly (mjdaly@broadinstitute.org), The Broad Institute, Harvard Medical School (pptx)

Emerging Exome Results from the NHLBI/NHGRI Exome Project

Patricia Donahoe (PDONAHOE@PARTNERS.ORG), Massachusetts General Hospital (ppt)

Jeff O'Connell (joconnel@medicine.umaryland.edu), University of Maryland (ppt)

Ray Hershberger (RHershberger@med.miami.edu), University of Miami

NHLBI GO ESP Sequencing QC Update

Stacey Gabriel (stacey@broad.mit.edu), BroadGO (pdf)

Mark Rieder (mrieder@uw.edu), SeattleGO (pptx)

SNP Quality Assessment Metrics

Mark DePristo (Mark@depristo.com), BroadGO (pptx)

NHLBI GO ESP Phase 1 Phenotypes, Presentation and Discussion - Part 1

Early MI - Sekar Kathiresan (skathiresan@partners.org), BroadGO (pdf)

BMI/T2D - Chris Carlson (csc47@uw.edu), WHISP (ppt)


Eric Boerwinkle (Eric.Boerwinkle@uth.tmc.edu), CHARGE-S (pptx)

NHLBI GO ESP Family Studies

Jay Shendure (shendure@uw.edu), SeattleGO (ppt)

NHLBI GO ESP Phase 1 Phenotypes, Presentation and Discussion - Part 2

Lung - Rasika Mathias (rmathias@jhmi.edu), LungGO (pdf)

LDL - Leslie Lange (leslie_lange@med.unc.edu), HeartGO, and Goncalo Abecasis, BroadGO (goncalo@umich.edu) (pdf)

Thursday, October 14

ELSI Report
Holly Tabor (holly.tabor@seattlechildrens.org), LungGO

Cancer Genome Project Update

Tim Graubert (graubert@medicine.wustl.edu), WashU GO (pptx)

Sequencing in Isolated Populations: The SardiNIA Study

Goncalo Abecasis (goncalo@umich.edu), BroadGO (pdf)

Education Sessions

Exome and Full-Genome Data Comparisons - Simon Gravel (gravel@stanford.edu), SeattleGO (pptx)

Admixture Mapping and Cloud Computing - Jeff Kidd (jkidd@stanford.edu), SeattleGO (pptx)

dbGaP User Interface - Mike Feolo (feolo@ncbi.nlm.nih.govu), NCBI (pptx)

Replication Planning

Replication - Suzanne Leal (suzannemleal@gmail.com), SeattleGO (pdf)