A genomic mutational constraint map using variation in 76,156 human genomes Article Swipe

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Siwei Chen , Laurent C. Francioli , Julia K. Goodrich , Ryan L. Collins , Masahiro Kanai , Qingbo S. Wang , Jessica Alföldi , Nicholas A. Watts , Christopher Vittal , Laura D. Gauthier , Timothy Poterba , Michael W. Wilson , Yekaterina Tarasova , William Phu , Riley Grant , 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 , Valentín Ruano-Rubio , Miguel Covarrubias , Christopher Llanwarne , Nikelle Petrillo , Gordon Wade , Thibault Jeandet , Ruchi Munshi , Kathleen Tibbetts , María T. Abreu , Carlos A. Aguilar‐Salinas , Tariq Ahmad , Christine M. Albert , Diego Ardissino , Irina M. Armean , Elizabeth G. Atkinson , Gil Atzmon , John Barnard , Samantha Baxter , Laurent Beaugerie , Emelia J. Benjamin , David Benjamin , Michael Boehnke , Lori L. Bonnycastle , Erwin P. Böttinger , Donald W. Bowden , Matthew J. Bown , Harrison Brand , Steven R. Brant , Ted Brookings , Sam Bryant , Sarah E. Calvo , Hannia Campos , John C. Chambers , Juliana C.N. Chan , Katherine R. Chao , Sinéad B. Chapman , Daniel I. Chasman , Rex L. Chisholm , Judy H. Cho , Rajiv Chowdhury , Mina K. Chung , Wendy K. Chung , Kristian Cibulskis , Bruce M. Cohen , Kristen M. Connolly , Adolfo Correa , Beryl B. Cummings , Dana Dabelea , John Danesh , Dawood Darbar , Phil Darnowsky , Joshua C. Denny , Ravindranath Duggirala , Josée Dupuis , Patrick T. Ellinor , Roberto Elosúa , James Emery , Eleina England , Jeanette Erdmann , Tõnu Esko , Emily Evangelista , Diane Fatkin , José C. Florez , André Franke , Jack Fu , Martti Färkkilâ , Kiran Garimella , Jeff Gentry , Gad Getz , David C. Glahn , Benjamin Gläser , Stephen J. Glatt , David B. Goldstein ·

YOU? · · 2023 · Open Access · · DOI: https://doi.org/10.1038/s41586-023-06045-0

Related Topics

Human Genome

Biology

Computational Biology

Concepts

Variation (astronomy) Genome Constraint (computer-aided design) Human genome Biology Computational biology Genetics Genomics Evolutionary biology Human genetic variation Structural variation Gene Mathematics Physics Geometry Astrophysics

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Type: article
Language: en
Landing Page: https://doi.org/10.1038/s41586-023-06045-0
OA Status: green
Cited By: 974
References: 89
Related Works: 10
OpenAlex ID: https://openalex.org/W4389367121

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OpenAlex ID: https://openalex.org/W4389367121

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DOI: https://doi.org/10.1038/s41586-023-06045-0

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Title: A genomic mutational constraint map using variation in 76,156 human genomes

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Type: article

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Language: en

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Publication year: 2023

Year of publication
Publication date: 2023-12-06

Full publication date if available
Authors: Siwei Chen, Laurent C. Francioli, Julia K. Goodrich, Ryan L. Collins, Masahiro Kanai, Qingbo S. Wang, Jessica Alföldi, Nicholas A. Watts, Christopher Vittal, Laura D. Gauthier, Timothy Poterba, Michael W. Wilson, Yekaterina Tarasova, William Phu, Riley Grant, 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, Valentín Ruano-Rubio, Miguel Covarrubias, Christopher Llanwarne, Nikelle Petrillo, Gordon Wade, Thibault Jeandet, Ruchi Munshi, Kathleen Tibbetts, María T. Abreu, Carlos A. Aguilar‐Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Irina M. Armean, Elizabeth G. Atkinson, Gil Atzmon, John Barnard, Samantha Baxter, Laurent Beaugerie, Emelia J. Benjamin, David Benjamin, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Böttinger, Donald W. Bowden, Matthew J. Bown, Harrison Brand, Steven R. Brant, Ted Brookings, Sam Bryant, Sarah E. Calvo, Hannia Campos, John C. Chambers, Juliana C.N. Chan, Katherine R. Chao, Sinéad B. Chapman, Daniel I. Chasman, Rex L. Chisholm, Judy H. Cho, Rajiv Chowdhury, Mina K. Chung, Wendy K. Chung, Kristian Cibulskis, Bruce M. Cohen, Kristen M. Connolly, Adolfo Correa, Beryl B. Cummings, Dana Dabelea, John Danesh, Dawood Darbar, Phil Darnowsky, Joshua C. Denny, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosúa, James Emery, Eleina England, Jeanette Erdmann, Tõnu Esko, Emily Evangelista, Diane Fatkin, José C. Florez, André Franke, Jack Fu, Martti Färkkilâ, Kiran Garimella, Jeff Gentry, Gad Getz, David C. Glahn, Benjamin Gläser, Stephen J. Glatt, David B. Goldstein

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Landing page: https://doi.org/10.1038/s41586-023-06045-0

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Open access: Yes

Whether a free full text is available
OA status: green

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OA URL: https://www.ncbi.nlm.nih.gov/pmc/articles/11629659

Direct OA link when available
Concepts: Variation (astronomy), Genome, Constraint (computer-aided design), Human genome, Biology, Computational biology, Genetics, Genomics, Evolutionary biology, Human genetic variation, Structural variation, Gene, Mathematics, Physics, Geometry, Astrophysics

Top concepts (fields/topics) attached by OpenAlex
Cited by: 974

Total citation count in OpenAlex
Citations by year (recent): 2025: 580, 2024: 381, 2023: 13

Per-year citation counts (last 5 years)
References (count): 89

Number of works referenced by this work
Related works (count): 10

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referenced_works_count	89
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