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Cell · 2022

Genomic architecture of autism from comprehensive whole-genome sequence annotation.

СтатьяПоддержка исследования: вне правительства СШАПоддержка NIH: внешняя программаНазвание и аннотация: Перевод в очереди
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Trost Brett, Thiruvahindrapuram Bhooma, Chan Ada J S, Engchuan Worrawat, Higginbotham Edward J, Howe Jennifer L, Loureiro Livia O, Reuter Miriam S, Roshandel Delnaz, Whitney Joe, Zarrei Mehdi, Bookman Matthew, Somerville Cherith, Shaath Rulan, Abdi Mona, Aliyev Elbay, Patel Rohan V, Nalpathamkalam Thomas, Pellecchia Giovanna, Hamdan Omar, Kaur Gaganjot, Wang Zhuozhi, MacDonald Jeffrey R, Wei John, Sung Wilson W L, Lamoureux Sylvia, Hoang Ny, Selvanayagam Thanuja, Deflaux Nicole, Geng Melissa, Ghaffari Siavash, Bates John, Young Edwin J, Ding Qiliang, Shum Carole, D'Abate Lia, Bradley Clarrisa A, Rutherford Annabel, Aguda Vernie, Apresto Beverly, Chen Nan, Desai Sachin, Du Xiaoyan, Fong Matthew L Y, Pullenayegum Sanjeev, Samler Kozue, Wang Ting, Ho Karen, Paton Tara, Pereira Sergio L, Herbrick Jo-Anne, Wintle Richard F, Fuerth Jonathan, Noppornpitak Juti, Ward Heather, Magee Patrick, Al Baz Ayman, Kajendirarajah Usanthan, Kapadia Sharvari, Vlasblom Jim, Valluri Monica, Green Joseph, Seifer Vicki, Quirbach Morgan, Rennie Olivia, Kelley Elizabeth, Masjedi Nina, Lord Catherine, Szego Michael J, Zawati Ma'n H, Lang Michael, Strug Lisa J, Marshall Christian R, Costain Gregory, Calli Kristina, Iaboni Alana, Yusuf Afiqah, Ambrozewicz Patricia, Gallagher Louise, Amaral David G, Brian Jessica, Elsabbagh Mayada, Georgiades Stelios, Messinger Daniel S, Ozonoff Sally, Sebat Jonathan, Sjaarda Calvin, Smith Isabel M, Szatmari Peter, Zwaigenbaum Lonnie, Kushki Azadeh, Frazier Thomas W, Vorstman Jacob A S, Fakhro Khalid A, Fernandez Bridget A, Lewis M E Suzanne, Weksberg Rosanna, Fiume Marc, Yuen Ryan K C, Anagnostou Evdokia, Sondheimer Neal, Glazer David, Hartley Dean M, Scherer Stephen W

Аннотация

Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which includes WGS data from 5,100 individuals with ASD and 6,212 non-ASD parents and siblings (total n = 11,312). Examining a wide variety of genetic variants in MSSNG and the Simons Simplex Collection (SSC; n = 9,205), we identified ASD-associated rare variants in 718/5,100 individuals with ASD from MSSNG (14.1%) and 350/2,419 from SSC (14.5%). Considering genomic architecture, 52% were nuclear sequence-level variants, 46% were nuclear structural variants (including copy-number variants, inversions, large insertions, uniparental isodisomies, and tandem repeat expansions), and 2% were mitochondrial variants. Our study provides a guidebook for exploring genotype-phenotype correlations in families who carry ASD-associated rare variants and serves as an entry point to the expanded studies required to dissect the etiology in the ∼85% of the ASD population that remain idiopathic.

Предметные рубрики MeSH

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты