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Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases.
Garrison MA, Jang Y, Bae T, Cherskov A, Emery SB, Fasching L, Jones A, Moldovan JB, Molitor C, Pochareddy S, Peters MA, Shin JH, Wang Y, Yang X, Akbarian S, Chess A, Gage FH, Gleeson JG, Kidd JM, McConnell M, Mills RE, Moran JV, Park PJ, Sestan N, Urban AE, Vaccarino FM, Walsh CA, Weinberger DR, Wheelan SJ, Abyzov A; BSMN Consortium. Garrison MA, et al. Sci Data. 2023 Nov 20;10(1):813. doi: 10.1038/s41597-023-02645-7. Sci Data. 2023. PMID: 37985666 Free PMC article.
Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions.
Maury EA, Sherman MA, Genovese G, Gilgenast TG, Kamath T, Burris SJ, Rajarajan P, Flaherty E, Akbarian S, Chess A, McCarroll SA, Loh PR, Phillips-Cremins JE, Brennand KJ, Macosko EZ, Walters JTR, O'Donovan M, Sullivan P; Psychiatric Genomic Consortium Schizophrenia and CNV workgroup; Brain Somatic Mosaicism Network; Sebat J, Lee EA, Walsh CA. Maury EA, et al. Cell Genom. 2023 Jul 6;3(8):100356. doi: 10.1016/j.xgen.2023.100356. eCollection 2023 Aug 9. Cell Genom. 2023. PMID: 37601975 Free PMC article.
Control-independent mosaic single nucleotide variant detection with DeepMosaic.
Yang X, Xu X, Breuss MW, Antaki D, Ball LL, Chung C, Shen J, Li C, George RD, Wang Y, Bae T, Cheng Y, Abyzov A, Wei L, Alexandrov LB, Sebat JL; NIMH Brain Somatic Mosaicism Network; Gleeson JG. Yang X, et al. Nat Biotechnol. 2023 Jun;41(6):870-877. doi: 10.1038/s41587-022-01559-w. Epub 2023 Jan 2. Nat Biotechnol. 2023. PMID: 36593400 Free PMC article.
Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability.
Bae T, Fasching L, Wang Y, Shin JH, Suvakov M, Jang Y, Norton S, Dias C, Mariani J, Jourdon A, Wu F, Panda A, Pattni R, Chahine Y, Yeh R, Roberts RC, Huttner A, Kleinman JE, Hyde TM, Straub RE, Walsh CA; Brain Somatic Mosaicism Network§; Urban AE, Leckman JF, Weinberger DR, Vaccarino FM, Abyzov A. Bae T, et al. Science. 2022 Jul 29;377(6605):511-517. doi: 10.1126/science.abm6222. Epub 2022 Jul 28. Science. 2022. PMID: 35901164 Free PMC article.
Complex mosaic structural variations in human fetal brains.
Sekar S, Tomasini L, Proukakis C, Bae T, Manlove L, Jang Y, Scuderi S, Zhou B, Kalyva M, Amiri A, Mariani J, Sedlazeck FJ, Urban AE, Vaccarino FM, Abyzov A. Sekar S, et al. Among authors: scuderi s. Genome Res. 2020 Dec;30(12):1695-1704. doi: 10.1101/gr.262667.120. Epub 2020 Oct 29. Genome Res. 2020. PMID: 33122304 Free PMC article.
The role of somatic mosaicism in brain disease.
Jourdon A, Fasching L, Scuderi S, Abyzov A, Vaccarino FM. Jourdon A, et al. Among authors: scuderi s. Curr Opin Genet Dev. 2020 Dec;65:84-90. doi: 10.1016/j.gde.2020.05.002. Epub 2020 Jul 1. Curr Opin Genet Dev. 2020. PMID: 32622340 Free PMC article. Review.
28 results