Article
Comprehensive identification of somatic nucleotide variants in human brain tissue.
Genome biology - 29 Mar 2021
Wang Yifan, Bae Taejeong, Thorpe Jeremy, Sherman Maxwell A, Jones Attila G, Cho Sean, Daily Kenneth, Dou Yanmei, Ganz Javier, Galor Alon, Lobon Irene, Pattni Reenal, Rosenbluh Chaggai, Tomasi Simone, Tomasini Livia, Yang Xiaoxu, Zhou Bo, Akbarian Schahram, Ball Laurel L, Bizzotto Sara, Emery Sarah B, Doan Ryan, Fasching Liana, Jang Yeongjun, Juan David, Lizano Esther, Luquette Lovelace J, Moldovan John B, Narurkar Rujuta, Oetjens Matthew T, Rodin Rachel E, Sekar Shobana, Shin Joo Heon, Soriano Eduardo, Straub Richard E, Zhou Weichen, Chess Andrew, Gleeson Joseph G, Marquès-Bonet Tomas, Park Peter J, Peters Mette A, Pevsner Jonathan, Walsh Christopher A, Weinberger Daniel R, Vaccarino Flora M, Moran John V, Urban Alexander E, Kidd Jeffrey M, Mills Ryan E, Abyzov Alexej
Abstract excerpt
BACKGROUND: Post-zygotic mutations incurred during DNA replication, DNA repair, and other cellular processes lead to somatic mosaicism. Somatic mosaicism is an established cause of various diseases, including cancers. However, detecting mosaic variants in DNA from non-cancerous somatic tissues poses significant challenges, particularly if the variants only are present in a small fraction of cells. RESULTS: Here,...
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