Transcript expression-aware annotation improves rare variant interpretation

Beryl B. Cummings , Konrad J. Karczewski , Jack A. Kosmicki , Beryl B. Cummings , Konrad J. Karczewski , Jack A. Kosmicki , Eleanor G. Seaby , Nicholas A. Watts , Moriel Singer‐Berk , Jonathan M. Mudge , Juha Karjalainen , F. Kyle Satterstrom , Anne O’Donnell‐Luria , Timothy Poterba , Cotton Seed , Matthew Solomonson , Jessica Alföldi , Jessica Alföldi , Irina M. Armean , Eric Banks , Louis Bergelson , Kristian Cibulskis , Ryan L. Collins , Kristen M. Connolly , Miguel Covarrubias , Beryl B. Cummings , Mark J. Daly , Stacey Donnelly , Yossi Farjoun , Steven Ferriera , Laurent C. Francioli , Stacey Gabriel , Laura D. Gauthier , Jeff Gentry , Namrata Gupta , Thibault Jeandet , Diane Kaplan , Konrad J. Karczewski , Kristen M. Laricchia , Christopher Llanwarne , Eric Vallabh Minikel , Ruchi Munshi , Benjamin M. Neale , Sam Novod , Anne O’Donnell‐Luria , Nikelle Petrillo , Timothy Poterba , David Roazen , Valentín Ruano-Rubio , Andrea Saltzman , Kaitlin E. Samocha , Molly Schleicher , Cotton Seed , Matthew Solomonson , José Soto , Grace Tiao , Kathleen Tibbetts , Charlotte Tolonen , Christopher Vittal , Gordon Wade , Arcturus Wang , Qingbo S. Wang , James S. Ware , Nicholas A. Watts , Ben Weisburd , Nicola Whiffin , Carlos A. Aguilar‐Salinas , Tariq Ahmad , Christine M. Albert , Diego Ardissino , Gil Atzmon , John Barnard , Laurent Beaugerie , Emelia J. Benjamin , Michael Boehnke , Lori L. Bonnycastle , Erwin P. Böttinger , Donald W. Bowden , Matthew J. Bown , John C. Chambers , Juliana C.N. Chan , Daniel I. Chasman , Judy H. Cho , Mina K. Chung , Bruce M. Cohen , Adolfo Correa , Dana Dabelea , Mark J. Daly , Dawood Darbar , Ravindranath Duggirala , Josée Dupuis , Patrick T. Ellinor , Roberto Elosúa , Jeanette Erdmann , Tõnu Esko , Martti Färkkilâ , José C. Florez , André Franke , Gad Getz , Benjamin Gläser , Stephen J. Glatt , David Goldstein , Clicerio González
2020 Nature 193 citations

Keywords

GeneticsBiologyGeneAnnotationComputational biologyHaploinsufficiencyGenomeHuman genomePopulationGenetic variationPhenotypeFunction (biology)Loss functionMedicine

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Year
2020
Type
article
Volume
581
Issue
7809
Pages
452-458
Citations
193
Access
Closed

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Beryl B. Cummings, Konrad J. Karczewski, Jack A. Kosmicki et al. (2020). Transcript expression-aware annotation improves rare variant interpretation. Nature , 581 (7809) , 452-458. https://doi.org/10.1038/s41586-020-2329-2

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DOI
10.1038/s41586-020-2329-2