Control-independent mosaic single nucleotide variant detection with DeepMosaic
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Published:2023-01-02
Issue:6
Volume:41
Page:870-877
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ISSN:1087-0156
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Container-title:Nature Biotechnology
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language:en
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Short-container-title:Nat Biotechnol
Author:
Yang XiaoxuORCID, Xu Xin, Breuss Martin W., Antaki Danny, Ball Laurel L., Chung Changuk, Shen Jiawei, Li ChenORCID, George Renee D., Wang YifanORCID, Bae Taejeong, Cheng Yuhe, Abyzov AlexejORCID, Wei Liping, Alexandrov Ludmil B., Sebat Jonathan L., Averbuj Dan, Roy Subhojit, Courchesne Eric, Huang August Y., D’Gama Alissa, Dias Caroline, Walsh Christopher A., Ganz Javier, Lodato Michael, Miller Michael, Li Pengpeng, Rodin Rachel, Hill Robert, Bizzotto Sara, Khoshkhoo Sattar, Zhou Zinan, Lee Alice, Barton Alison, Galor Alon, Chu Chong, Bohrson Craig, Gulhan Doga, Maury Eduardo, Lim Elaine, Lim Euncheon, Melloni Giorgio, Cortes Isidro, Lee Jake, Luquette Joe, Yang Lixing, Sherman Maxwell, Coulter Michael, Kwon Minseok, Park Peter J., Borges-Monroy Rebeca, Lee Semin, Kim Sonia, Lee Soo, Viswanadham Vinary, Dou Yanmei, Chess Andrew J., Jones Attila, Rosenbluh Chaggai, Akbarian Schahram, Langmead Ben, Thorpe Jeremy, Cho Sean, Jaffe Andrew, Paquola Apua, Weinberger Daniel, Erwin Jennifer, Shin Jooheon, McConnell Michael, Straub Richard, Narurkar Rujuta, Jang Yeongjun, Molitor Cindy, Peters Mette, Gage Fred H., Wang Meiyan, Reed Patrick, Linker Sara, Urban Alexander, Zhou Bo, Zhu Xiaowei, Amero Aitor S., Juan David, Povolotskaya Inna, Lobon Irene, Moruno Manuel S., Perez Raquel G., Marques-Bonet Tomas, Soriano Eduardo, Mathern Gary, Flasch Diane, Frisbie Trenton, Kopera Huira, Kidd Jeffrey, Moldovan John, Moran John V., Kwan Kenneth, Mills Ryan, Emery Sarah, Zhou Weichen, Zhao Xuefang, Ratan Aakrosh, Jourdon Alexandre, Vaccarino Flora M., Fasching Liana, Sestan Nenad, Pochareddy Sirisha, Scuderi Soraya, Gleeson Joseph G.ORCID,
Funder
U.S. Department of Health & Human Services | NIH | National Institute of Mental Health
Publisher
Springer Science and Business Media LLC
Subject
Biomedical Engineering,Molecular Medicine,Applied Microbiology and Biotechnology,Bioengineering,Biotechnology
Reference41 articles.
1. Dou, Y., Gold, H. D., Luquette, L. J. & Park, P. J. Detecting somatic mutations in normal cells. Trends Genet. 34, 545–557 (2018). 2. Biesecker, L. G. & Spinner, N. B. A genomic view of mosaicism and human disease. Nat. Rev. Genet. 14, 307–320 (2013). 3. Lee, J. H. et al. Human glioblastoma arises from subventricular zone cells with low-level driver mutations. Nature 560, 243–247 (2018). 4. Yang, X. et al. MosaicBase: a knowledgebase of postzygotic mosaic variants in noncancer disease-related and healthy human individuals. Genom. Proteom. Bioinform. 18, 140–149 (2020). 5. Poduri, A., Evrony, G. D., Cai, X. & Walsh, C. A. Somatic mutation, genomic variation, and neurological disease. Science 341, 1237758 (2013).
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