Inferring compound heterozygosity from large-scale exome sequencing data
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Published:2023-12-06
Issue:1
Volume:56
Page:152-161
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ISSN:1061-4036
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Container-title:Nature Genetics
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language:en
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Short-container-title:Nat Genet
Author:
Guo Michael H., Francioli Laurent C.ORCID, Stenton Sarah L.ORCID, Goodrich Julia K., Watts Nicholas A., Singer-Berk Moriel, Groopman Emily, Darnowsky Philip W., Solomonson Matthew, Baxter SamanthaORCID, Abreu Maria, Salinas Carlos A. Aguilar, Ahmad Tariq, Albert Christine M., Alföldi Jessica, Ardissino Diego, Armean Irina M., Atzmon Gil, Banks Eric, Barnard John, Baxter Samantha M., Beaugerie Laurent, Benjamin Emelia J., Benjamin David, Bergelson Louis, Boehnke Michael, Bonnycastle Lori L., Bottinger Erwin P., Bowden Donald W., Bown Matthew J., Brant Steven, Calvo Sarah E., Campos Hannia, Chambers John C., Chan Juliana C., Chao Katherine R., Chapman Sinéad, Chasman Daniel, Chen Siwei, Chisholm Rex L., Cho Judy, Chowdhury Rajiv, Chung Mina K., Chung Wendy K., Cibulskis Kristian, Cohen Bruce, Collins Ryan L., Connolly Kristen M., Correa Adolfo, Covarrubias Miguel, Cummings Beryl, Dabelea Dana, Danesh John, Darbar Dawood, Denny Joshua, Donnelly Stacey, Duggirala Ravindranath, Dupuis Josée, Ellinor Patrick T., Elosua Roberto, Emery James, England Eleina, Erdmann Jeanette, Esko Tõnu, Evangelista Emily, Farjoun Yossi, Fatkin Diane, Ferriera Steven, Florez Jose, Franke Andre, Färkkilä Martti, Gabriel Stacey, Garimella Kiran, Gauthier Laura D., Gentry Jeff, Getz Gad, Glahn David C., Glaser Benjamin, Glatt Stephen J., Goldstein David, Gonzalez Clicerio, Groop Leif, Gudmundsson Sanna, Gupta Namrata, Haessly Andrea, Haiman Christopher, Hall Ira, Hanis Craig, Harms Matthew, Hiltunen Mikko, Holi Matti M., Hultman Christina M., Jalas Chaim, Jeandet Thibault, Kallela Mikko, Kaplan Diane, Kaprio Jaakko, Kathiresan Sekar, Kenny Eimear, Kim Bong-Jo, Kim Young Jin, Kirov George, Koenig Zan, Kooner Jaspal, Koskinen Seppo, Krumholz Harlan M., Kugathasan Subra, Kwak Soo Heon, Laakso Markku, Lake Nicole, Langsford Trevyn, Laricchia Kristen M., Lehtimäki Terho, Lek Monkol, Lipscomb Emily, Llanwarne Christopher, Loos Ruth J. F., Lubitz Steven A., Luna Teresa Tusie, Ma Ronald C. W., Marcus Gregory M., Marrugat Jaume, Martin Alicia R., Mattila Kari M., McCarroll Steven, McCarthy Mark I., McCauley Jacob, McGovern Dermot, McPherson Ruth, Meigs James B., Melander Olle, Metspalu Andres, Meyers Deborah, Minikel Eric V., Mitchell Braxton D., Mootha Vamsi K., Munshi Ruchi, Naheed Aliya, Nazarian Saman, Nilsson Peter M., Novod Sam, O’Donnell-Luria Anne H., O’Donovan Michael C., Okada Yukinori, Ongur Dost, Orozco Lorena, Owen Michael J., Palmer Colin, Palmer Nicholette D., Palotie Aarno, Park Kyong Soo, Pato Carlos, Petrillo Nikelle, Phu William, Poterba Timothy, Pulver Ann E., Rader Dan, Rahman Nazneen, Reiner Alex, Remes Anne M., Rhodes Dan, Rich Stephen, Rioux John D., Ripatti Samuli, Roazen David, Roden Dan M., Rotter Jerome I., Ruano-Rubio Valentin, Sahakian Nareh, Saleheen Danish, Salomaa Veikko, Saltzman Andrea, Samani Nilesh J., Scharf Jeremiah, Schleicher Molly, Schunkert Heribert, Schönherr Sebastian, Seaby Eleanor, Seed Cotton, Shah Svati H., Shand Megan, Shoemaker Moore B., Shyong Tai, Silverman Edwin K., Sklar Pamela, Smith J. Gustav, Smith Jonathan T., Soininen Hilkka, Sokol Harry, Son Rachel G., Soto Jose, Spector Tim, Stevens Christine, Stitziel Nathan, Sullivan Patrick F., Suvisaari Jaana, Tai E. Shyong, Talkowski Michael E., Tarasova Yekaterina, Taylor Kent D., Teo Yik Ying, Tibbetts Kathleen, Tolonen Charlotte, Tsuang Ming, Tuomi Tiinamaija, Turner Dan, Tusie-Luna Teresa, Vartiainen Erkki, Vawter Marquis, Vittal Christopher, Wade Gordon, Wang Arcturus, Wang Qingbo, Ware James S., Watkins Hugh, Weersma Rinse K., Weisburd Ben, Wessman Maija, Whiffin Nicola, Wilson Michael W., Wilson James G., Xavier Ramnik J., Yohannes Mary T., Tiao Grace, Neale Benjamin M.ORCID, Hirschhorn Joel N.ORCID, Rehm Heidi L.ORCID, Daly Mark J.ORCID, O’Donnell-Luria AnneORCID, Karczewski Konrad J.ORCID, MacArthur Daniel G., Samocha Kaitlin E.ORCID,
Funder
U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute
Publisher
Springer Science and Business Media LLC
Reference38 articles.
1. Wang, Q. et al. Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nat. Commun. 11, 2539 (2020). 2. Bansal, V., Halpern, A. L., Axelrod, N. & Bafna, V. An MCMC algorithm for haplotype assembly from whole-genome sequence data. Genome Res. 18, 1336–1346 (2008). 3. Patterson, M. et al. WhatsHap: weighted haplotype assembly for future-generation sequencing reads. J. Comput. Biol. 22, 498–509 (2015). 4. Hager, P., Mewes, H.-W., Rohlfs, M., Klein, C. & Jeske, T. SmartPhase: accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases. PLoS Comput. Biol. 16, e1007613 (2020). 5. Maestri, S. et al. A long-read sequencing approach for direct haplotype phasing in clinical settings. Int. J. Mol. Sci. 21, 9177 (2020).
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