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A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
Siwei Chen, Laurent C. Francioli, Julia K. Goodrich, Ryan L. Collins, Qingbo Wang, Jessica Alföldi, Nicholas A. Watts, Christopher Vittal, Laura D. Gauthier, Timothy Poterba, Michael W. Wilson, Yekaterina Tarasova, William Phu, Mary T. Yohannes, Zan Koenig, Yossi Farjoun, Eric Banks, Stacey Donnelly, Stacey Gabriel, Namrata Gupta, Steven Ferriera, Charlotte Tolonen, Sam Novod, Louis Bergelson, David Roazen, Valentin Ruano-Rubio, Miguel Covarrubias, Christopher Llanwarne, Nikelle Petrillo, Gordon Wade, Thibault Jeandet, Ruchi Munshi, Kathleen Tibbetts, gnomAD Project Consortium, View ORCID ProfileAnne O’Donnell-Luria, Matthew Solomonson, Cotton Seed, View ORCID ProfileAlicia R. Martin, Michael E. Talkowski, Heidi L. Rehm, View ORCID ProfileMark J. Daly, Grace Tiao, View ORCID ProfileBenjamin M. Neale, Daniel G. MacArthur, View ORCID ProfileKonrad J. Karczewski
doi: https://doi.org/10.1101/2022.03.20.485034
Siwei Chen
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
2Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
Laurent C. Francioli
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
2Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
Julia K. Goodrich
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
2Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
Ryan L. Collins
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
3Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA
4Division of Medical Sciences, Harvard Medical School, Boston, MA, USA
Qingbo Wang
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
5Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan
Jessica Alföldi
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
2Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
Nicholas A. Watts
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
2Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
Christopher Vittal
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
2Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
Laura D. Gauthier
6Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Timothy Poterba
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
2Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
7Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Michael W. Wilson
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
2Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
Yekaterina Tarasova
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
William Phu
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
2Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
Mary T. Yohannes
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Zan Koenig
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Yossi Farjoun
6Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Eric Banks
6Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Stacey Donnelly
7Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Stacey Gabriel
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
7Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Namrata Gupta
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
7Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Steven Ferriera
7Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Charlotte Tolonen
6Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Sam Novod
6Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Louis Bergelson
6Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA
David Roazen
6Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Valentin Ruano-Rubio
6Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Miguel Covarrubias
6Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Christopher Llanwarne
6Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Nikelle Petrillo
6Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Gordon Wade
6Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Thibault Jeandet
6Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Ruchi Munshi
6Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Kathleen Tibbetts
6Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Anne O’Donnell-Luria
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
2Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
8Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA
Matthew Solomonson
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
2Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
Cotton Seed
2Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
9Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Alicia R. Martin
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
2Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
Michael E. Talkowski
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
3Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA
Heidi L. Rehm
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
3Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA
Mark J. Daly
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
2Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
10Institute for Molecular Medicine Finland, (FIMM) Helsinki, Finland
Grace Tiao
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
2Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
Benjamin M. Neale
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
2Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
9Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Daniel G. MacArthur
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
2Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
11Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, Australia
12Centre for Population Genomics, Murdoch Children’s Research Institute, Melbourne, Australia
Konrad J. Karczewski
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
2Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
9Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Article usage
Posted March 21, 2022.
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
Siwei Chen, Laurent C. Francioli, Julia K. Goodrich, Ryan L. Collins, Qingbo Wang, Jessica Alföldi, Nicholas A. Watts, Christopher Vittal, Laura D. Gauthier, Timothy Poterba, Michael W. Wilson, Yekaterina Tarasova, William Phu, Mary T. Yohannes, Zan Koenig, Yossi Farjoun, Eric Banks, Stacey Donnelly, Stacey Gabriel, Namrata Gupta, Steven Ferriera, Charlotte Tolonen, Sam Novod, Louis Bergelson, David Roazen, Valentin Ruano-Rubio, Miguel Covarrubias, Christopher Llanwarne, Nikelle Petrillo, Gordon Wade, Thibault Jeandet, Ruchi Munshi, Kathleen Tibbetts, gnomAD Project Consortium, Anne O’Donnell-Luria, Matthew Solomonson, Cotton Seed, Alicia R. Martin, Michael E. Talkowski, Heidi L. Rehm, Mark J. Daly, Grace Tiao, Benjamin M. Neale, Daniel G. MacArthur, Konrad J. Karczewski
bioRxiv 2022.03.20.485034; doi: https://doi.org/10.1101/2022.03.20.485034
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
Siwei Chen, Laurent C. Francioli, Julia K. Goodrich, Ryan L. Collins, Qingbo Wang, Jessica Alföldi, Nicholas A. Watts, Christopher Vittal, Laura D. Gauthier, Timothy Poterba, Michael W. Wilson, Yekaterina Tarasova, William Phu, Mary T. Yohannes, Zan Koenig, Yossi Farjoun, Eric Banks, Stacey Donnelly, Stacey Gabriel, Namrata Gupta, Steven Ferriera, Charlotte Tolonen, Sam Novod, Louis Bergelson, David Roazen, Valentin Ruano-Rubio, Miguel Covarrubias, Christopher Llanwarne, Nikelle Petrillo, Gordon Wade, Thibault Jeandet, Ruchi Munshi, Kathleen Tibbetts, gnomAD Project Consortium, Anne O’Donnell-Luria, Matthew Solomonson, Cotton Seed, Alicia R. Martin, Michael E. Talkowski, Heidi L. Rehm, Mark J. Daly, Grace Tiao, Benjamin M. Neale, Daniel G. MacArthur, Konrad J. Karczewski
bioRxiv 2022.03.20.485034; doi: https://doi.org/10.1101/2022.03.20.485034
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