NHLBI Whole Exome Sequencing

GO Grant

Key Individuals

• Stacey Gabriel (Principal Investigator)
• David Altshuler (Principal Investigator)
• Sekar Kathiresan
• Shamil Sunayev
• Goncalo Abecasis
• Michael Boehnke

See also NHLBI Exome Sequencing: Broad Institute Protocol

Other Participants

Seattle GO

• Debbie Nickerson (Principal Investigator)
• Mark Rieder
• Suzanne Leal

The Seattle GO team will be generating whole exome sequences. They are expecting to generate 1,000 whole exome sequences in the first year. See also NHLBI Exome Sequencing: University of Washington Protocol

Heart GO

• Stephen Rich (Principal Investigator)
• Chris O'Donnell
• Russ Tracy

The Heart GO team is representing a set of [CHARGE] cohorts.

WHI GO

• Becky Jackson
• Chris Carlson
• Kari North

Lung GO

• Mike Bamshad (Principal Investigator)
• Kathleen Barnes
• Mary Emond

Related Projects

Eric Boerwinckle (Houston) is leading a large sequencing project to follow up on the CHARGE [GWAS] efforts. Although their initial focus was on targeted sequencing, the project seems to be morphing towards whole exome sequencing (target traits might include HDL-C, blood pressure, others).

Tim Graubert (Washington University St. Louis) is leading a project focused on several different focused phenotypes. Working with Elaine Mardis.

Key NHLBI Staff

• Deborah Applebaum-Bowden
• Alan Michelson
• Michael Lauer (Director, Division of Cardiovascular Sciences, NHLBI)

Meeting Presentations

April 2010 Meeting

Presentations from April 2010 face-to-face meeting are available at http://esp.gs.washington.edu/archives/0410/

Username

Presentations

Password

April6&7

Both the user name and password are case sensitive.

Committee Reports

Eric Torskey will collect (and distribute) slides with details.

Genotyping and Sequencing Working Group

NHLBI Whole Exome: Genotyping and Sequencing

Data Flow Working Group

NHLBI Whole Exome: Data Flow

Phenotype Working Group

NHLBI Whole Exome: Phenotype Working Group

Statistical Genetics Working Group

NHLBI Whole Exome: Statistical Genetics

Population Genetics Working Group

NHLBI Whole Exome: Population Genetics

ELSI Working Group

Did not report.

Publications Working Group

Did not report.

Planned Initial Experiments

Proposed Samples for Sequencing

• 3x96 Lung GO
  • 96 Cystic Fibrosis are plated and will be delivered this week

• 5x96 BMI/T2D
  • Conversation to happen this week between WHI and Heart GO

• 2x192 Early MI African American
• 2x192 Early MI European Ancestry
  • Conversation to happen this week between HeartGO, WHI and external cases sources

• 4x96 LDL

• 20x96 total samples
  • 50% delivered by 1/15
  • 50% delivered by 2/15

Action Items Under Discussion

• Define publications policy (January)
• Resolve embargo issue (January)
• Deliver DNA (January & February)
• Define common format for data delivery (March)
• Sequence initial 200 exomes (March)
  • 100 of these will be African American
• Develop dbGap pipeline (by June)
• Sequence 2000 exomes (by September)
  • Sequence 1000 exomes (by June)
• White paper on data QC