Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using po...
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
About this item
Full title
Author / Creator
Kosmicki, Jack A , Samocha, Kaitlin E , Howrigan, Daniel P , Sanders, Stephan J , Slowikowski, Kamil , Lek, Monkol , Karczewski, Konrad J , Cutler, David J , Devlin, Bernie , Roeder, Kathryn , Buxbaum, Joseph D , Neale, Benjamin M , MacArthur, Daniel G , Wall, Dennis P , Robinson, Elise B and Daly, Mark J
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Mark Daly and colleagues use population reference samples to refine the role of
de novo
protein-truncating variants in neurodevelopmental disorders. They show that variants independently observed in population reference samples do not contribute substantively to neurodevelopmental risk, and they use a loss-of-function intolerance metric to id...
Alternative Titles
Full title
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5496244
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5496244
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.3789
