P559: Improved classification framework demonstrates many population predicted loss of function (pLoF) variants in genomic sequencing do not result in LoF*

• Moriel Singer-Berk,
• Sanna Gudmundsson,
• Samantha Baxter,
• Eleanor Seaby,
• Eleina England,
• Jordan Wood,
• Rachel Son,
• Nicholas Watts,
• Konrad Karczewski,
• Steven Harrison,
• Daniel MacArthur,
• Heidi Rehm,
• Anne O'Donnell-Luria

Affiliations

Moriel Singer-Berk

Broad Institute of MIT and Harvard

Sanna Gudmundsson

Broad Institute of MIT and Harvard, Massachusetts General Hospital, Boston Children's Hospital

Samantha Baxter

Broad Institute of MIT and Harvard

Eleanor Seaby

Broad Institute of MIT and Harvard, Boston Children's Hospital, University Hospital Southampton

Eleina England

Broad Institute of MIT and Harvard

Jordan Wood

Broad Institute of MIT and Harvard

Rachel Son

Broad Institute of MIT and Harvard

Nicholas Watts

Broad Institute of MIT and Harvard

Konrad Karczewski

Broad Institute of MIT and Harvard, Massachusetts General Hospital

Steven Harrison

Broad Institute of MIT and Harvard, Ambry Genetics

Daniel MacArthur

Broad Institute of MIT and Harvard, Garvan Institute of Medical Research and UNSW

Heidi Rehm

Broad Institute of MIT and Harvard, Massachusetts General Hospital

Anne O'Donnell-Luria

Broad Institute of MIT and Harvard, Massachusetts General Hospital