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NHLBI GO Exome Sequencing Project (ESP) In-Person Meeting March 28, 2012 | NHLBI Grand Opportunity Exome Sequencing Project (ESP)

NHLBI GO Exome Sequencing Project (ESP) In-Person Meeting March 28, 2012

Many of the presentations hyperlinked below include unpublished, proprietary information.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, March 28

ESP Project to Date
-BroadGO - Stacey Gabriel (, BroadGO (pdf)
-SeattleGO - Debbie Nickerson (, SeattleGO (pdf)

Penultimate ESP Data Resources and Approaches
-ESP6900 Overview - Goncalo Abecasis (, BroadGO (pdf)
-Indel Calling – Mark DePristo (, BroadGO (pdf)
-Structural Variation – Nik Krumm (, SeattleGO and Aaron Quinlan ( HeartGO (pdf)

Lung Phenotype Project and Writing Team Reports
-Overview – Kathleen Barnes (, LungGO (pdf)
-Acute Lung Injury - Mark Wurfel ( (pdf)
-SKAT-O – Xihong Lin (, LungGO (pdf)
-Cystic Fibrosis – Mary Emond (, LungGO (pdf)
-Asthma – Debbie Meyers (, LungGO (pdf)
-LHS-COPD and PAH – Rasika Mathias (, LungGO (pdf)
-COPDGene – Michael Cho (, LungGO (pdf)

Project Reports
-Family Studies: Aortic Aneurysms – Dianna Milewicz (, Family Study Investigator (pdf)
-Early MI – Ron Do (, BroadGO (pdf)
-HDL/Triglycerides – Gina Peloso (, BroadGO (pdf)
-LDL – Cristen Willer (, BroadGO (pdf)
-Blood Pressure – Sara Pulit (, BroadGO (pdf)
-Stroke – Mike Nalls (, HeartGO (pdf)
-Atrial Fibrillation – Honghuang Lin (, HeartgO (pdf)
-Blood Cell Traits – Alex Reiner (
-C-Reactive Protein – Myron Gross (, HeartGO and Leslie Lange (, HeartGO/WHISP (pdf)
-BMI, Height, Insulin Glucose and T2D – Paul Auer (, WHISP (pdf)
-Reproductive Timing and Central Adiposity – Kristine Bucasas (, SeattleGO and Suzanne Leal (, SeattleGO (pdf)

ESP Master Manuscript
-Master Manuscript Discussion - Gonçalo Abecasis (, BroadGO and Suzanne Leal (, SeattleGO (Leads) (pdf)

Other Manuscripts/Remaining Issues -Discussion

The Future of the NHLBI GO ESP: Through 9/30/2012 and After
-NHLBI Perspective
-Discussion - Debbie Nickerson (, SeattleGO (Lead)