Comprehensive identification of somatic nucleotide variants in human brain tissue

Autor: Yifan Wang, Taejeong Bae, Jeremy Thorpe, Maxwell A. Sherman, Attila G. Jones, Sean Cho, Kenneth Daily, Yanmei Dou, Javier Ganz, Alon Galor, Irene Lobon, Reenal Pattni, Chaggai Rosenbluh, Simone Tomasi, Livia Tomasini, Xiaoxu Yang, Bo Zhou, Schahram Akbarian, Laurel L. Ball, Sara Bizzotto, Sarah B. Emery, Ryan Doan, Liana Fasching, Yeongjun Jang, David Juan, Esther Lizano, Lovelace J. Luquette, John B. Moldovan, Rujuta Narurkar, Matthew T. Oetjens, Rachel E. Rodin, Shobana Sekar, Joo Heon Shin, Eduardo Soriano, Richard E. Straub, Weichen Zhou, Andrew Chess, Joseph G. Gleeson, Tomas Marquès-Bonet, Peter J. Park, Mette A. Peters, Jonathan Pevsner, Christopher A. Walsh, Daniel R. Weinberger, Brain Somatic Mosaicism Network, Flora M. Vaccarino, John V. Moran, Alexander E. Urban, Jeffrey M. Kidd, Ryan E. Mills, Alexej Abyzov

Publikováno v: Genome Biology, Vol 22, Iss 1, Pp 1-32 (2021)

Abstract 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 mosai

Externí odkaz: https://doaj.org/article/ed8ec2a7cb594e94ba5848bb9fd9be5a

Intersection of diverse neuronal genomes and neuropsychiatric disease : The Brain Somatic Mosaicism Network

Autor: Brain Somatic Mosaicism Network, McConnell, Michael J., Moran, John V., Abyzov, Alexej, Akbarian, Schahram, Bae, Taejeong, Cortes-Ciriano, Isidro, Erwin, Jennifer A., Fasching, Liana, Flasch, Diane A., Freed, Donald, Ganz, Javier, Jaffe, Andrew E., Kwan, Kenneth Y., Kwon, Minseok, Lodato, Michael A., Mills, Ryan E., Paquola, Apua C. M., Rodin, Rachel E., Rosenbluh, Chaggai, Sestan, Nenad, Sherman, Maxwell A., Shin, Joo Heon, Song, Saera, Straub, Richard E., Thorpe, Jeremy, Weinberger, Daniel R., Urban, Alexander E., Zhou, Bo, Gage, Fred H., Lehner, Thomas, Senthil, Geetha, A. Walsh, Christopher, Chess, Andrew, Courchesne, Eric, Gleeson, Joseph G., Kidd, Jeffrey M., Park, Peter J., Pevsner, Jonathan, Vaccarino, Flora M.

Publikováno v: Science, 2017 Apr . 356(6336), 395-395.

Externí odkaz: https://www.jstor.org/stable/26398895

Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability

Autor: Bae, Taejeong, Fasching, Liana, Wang, Yifan, Shin, Joo Heon, Suvakov, Milovan, Jang, Yeongjun, Norton, Scott, Dias, Caroline, Mariani, Jessica, Jourdon, Alexandre, Wu, Feinan, Panda, Arijit, Pattni, Reenal, Chahine, Yasmine, Yeh, Rebecca, Roberts, Rosalinda C, Huttner, Anita, Kleinman, Joel E, Hyde, Thomas M, Straub, Richard E, Walsh, Christopher A, Brain Somatic Mosaicism Network§, Urban, Alexander E, Leckman, James F, Weinberger, Daniel R, Vaccarino, Flora M, Abyzov, Alexej

Publikováno v: Science (New York, N.Y.), vol 377, iss 6605

We analyzed 131 human brains (44 neurotypical, 19 with Tourette syndrome, 9 with schizophrenia, and 59 with autism) for somatic mutations after whole genome sequencing to a depth of more than 200×. Typically, brains had 20 to 60 detectable single-nu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::c41b892330c3d374a3afa33ffb101237
https://escholarship.org/uc/item/17d0k7qw

Comprehensive identification of somatic nucleotide variants in human brain tissue

Autor: 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 García, Eduardo, Straub, Richard E., Zhou, Weichen, Chess, Andrew, Gleeson, Joseph G., Marques-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, Brain Somatic Mosaicism Network

Publikováno v: Scientia
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Genome Biology
Dipòsit Digital de la UB
Universidad de Barcelona
Genome biology, vol 22, iss 1
Digital.CSIC. Repositorio Institucional del CSIC
instname
Genome Biology, Vol 22, Iss 1, Pp 1-32 (2021)

[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 varia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::641d9b8a29eb370772ac6d74e02b567d
https://hdl.handle.net/11351/6630

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