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

Authors :
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
Source :
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100606- (2023)
Publication Year :
2023
Publisher :
Elsevier, 2023.

Subjects

Subjects :
Genetics
QH426-470
Medicine

Details

Language :
English
ISSN :
29497744
Volume :
1
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Genetics in Medicine Open
Publication Type :
Academic Journal
Accession number :
edsdoj.fd7fd2f2170044c3b4749bc29ac01e56
Document Type :
article
Full Text :
https://doi.org/10.1016/j.gimo.2023.100606