- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
1 Online-Ressource.
- Language
-
Englisch
- Bibliographic citation
-
The mutational constraint spectrum quantified from variation in 141,456 humans ; volume:581 ; number:7809 ; day:27 ; month:5 ; year:2020 ; pages:434-443 ; date:5.2020
Nature; 581, Heft 7809 (27.5.2020), 434-443, 5.2020
- Creator
-
Karczewski, Konrad J.
Francioli, Laurent C.
Tiao, Grace
Cummings, Beryl B.
Alföldi, Jessica
Wang, Qingbo
Collins, Ryan L.
Laricchia, Kristen M.
Ganna, Andrea
Birnbaum, Daniel P.
Gauthier, Laura D.
Brand, Harrison
Solomonson, Matthew
Watts, Nicholas A.
Rhodes, Daniel
Singer-Berk, Moriel
England, Eleina M.
Seaby, Eleanor G.
Kosmicki, Jack A.
Walters, Raymond K.
Tashman, Katherine
Farjoun, Yossi
Banks, Eric
Poterba, Timothy
Wang, Arcturus
Seed, Cotton
Whiffin, Nicola
Chong, Jessica X.
Samocha, Kaitlin E.
Pierce-Hoffman, Emma
Zappala, Zachary
O'Donnell-Luria, Anne H.
Minikel, Eric Vallabh
Weisburd, Ben
Lek, Monkol
Ware, James S.
Vittal, Christopher
Armean, Irina M.
Bergelson, Louis
Cibulskis, Kristian
Connolly, Kristen M.
Covarrubias, Miguel
Donnelly, Stacey
Ferriera, Steven
Gabriel, Stacey
Gentry, Jeff
Gupta, Namrata
Jeandet, Thibault
Kaplan, Diane
Llanwarne, Christopher
Munshi, Ruchi
Novod, Sam
Petrillo, Nikelle
Roazen, David
Ruano-Rubio, Valentin
Saltzman, Andrea
Schleicher, Molly
Soto, Jose
Tibbetts, Kathleen
Tolonen, Charlotte
Wade, Gordon
Talkowski, Michael E.
Neale, Benjamin M.
Daly, Mark J.
MacArthur, Daniel G.
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1038/s41586-020-2308-7
- URN
-
urn:nbn:de:101:1-2502132209401.026223202760
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:26 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Karczewski, Konrad J.
- Francioli, Laurent C.
- Tiao, Grace
- Cummings, Beryl B.
- Alföldi, Jessica
- Wang, Qingbo
- Collins, Ryan L.
- Laricchia, Kristen M.
- Ganna, Andrea
- Birnbaum, Daniel P.
- Gauthier, Laura D.
- Brand, Harrison
- Solomonson, Matthew
- Watts, Nicholas A.
- Rhodes, Daniel
- Singer-Berk, Moriel
- England, Eleina M.
- Seaby, Eleanor G.
- Kosmicki, Jack A.
- Walters, Raymond K.
- Tashman, Katherine
- Farjoun, Yossi
- Banks, Eric
- Poterba, Timothy
- Wang, Arcturus
- Seed, Cotton
- Whiffin, Nicola
- Chong, Jessica X.
- Samocha, Kaitlin E.
- Pierce-Hoffman, Emma
- Zappala, Zachary
- O'Donnell-Luria, Anne H.
- Minikel, Eric Vallabh
- Weisburd, Ben
- Lek, Monkol
- Ware, James S.
- Vittal, Christopher
- Armean, Irina M.
- Bergelson, Louis
- Cibulskis, Kristian
- Connolly, Kristen M.
- Covarrubias, Miguel
- Donnelly, Stacey
- Ferriera, Steven
- Gabriel, Stacey
- Gentry, Jeff
- Gupta, Namrata
- Jeandet, Thibault
- Kaplan, Diane
- Llanwarne, Christopher
- Munshi, Ruchi
- Novod, Sam
- Petrillo, Nikelle
- Roazen, David
- Ruano-Rubio, Valentin
- Saltzman, Andrea
- Schleicher, Molly
- Soto, Jose
- Tibbetts, Kathleen
- Tolonen, Charlotte
- Wade, Gordon
- Talkowski, Michael E.
- Neale, Benjamin M.
- Daly, Mark J.
- MacArthur, Daniel G.
- SpringerLink (Online service)
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A spectrum of nonsense-mediated mRNA decay efficiency along the degree of mutational constraint
The 3D mutational constraint on amino acid sites in the human proteome
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
The amino-acid mutational spectrum of human genetic disease
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
Germline TP53 mutational spectrum in French Canadians with breast cancer
Review of published 467 achondroplasia patients: clinical and mutational spectrum
Mutational spectrum of syndromic genes in sporadic brain arteriovenous malformation
Schwerpunkt: Quantified self
Quantified linear programming
Singular quantified terms
Quantified linear programming
A spectrum of nonsense-mediated mRNA decay efficiency along the degree of mutational constraint
The 3D mutational constraint on amino acid sites in the human proteome
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
The amino-acid mutational spectrum of human genetic disease
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
Germline TP53 mutational spectrum in French Canadians with breast cancer
Review of published 467 achondroplasia patients: clinical and mutational spectrum
Mutational spectrum of syndromic genes in sporadic brain arteriovenous malformation
Schwerpunkt: Quantified self
Quantified linear programming
Singular quantified terms