Genomic architecture of autism from comprehensive whole-genome sequence annotation.
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ABSTRACT:
SUBMITTER: Trost B
PROVIDER: S-EPMC10726699 | biostudies-literature | 2022 Nov
REPOSITORIES: biostudies-literature
Publications
Genomic architecture of autism from comprehensive whole-genome sequence annotation.
Trost Brett B Thiruvahindrapuram Bhooma B Chan Ada J S AJS Engchuan Worrawat W Higginbotham Edward J EJ Howe Jennifer L JL Loureiro Livia O LO Reuter Miriam S MS Roshandel Delnaz D Whitney Joe J Zarrei Mehdi M Bookman Matthew M Somerville Cherith C Shaath Rulan R Abdi Mona M Aliyev Elbay E Patel Rohan V RV Nalpathamkalam Thomas T Pellecchia Giovanna G Hamdan Omar O Kaur Gaganjot G Wang Zhuozhi Z MacDonald Jeffrey R JR Wei John J Sung Wilson W L WWL Lamoureux Sylvia S Hoang Ny N Selvanayagam Thanuja T Deflaux Nicole N Geng Melissa M Ghaffari Siavash S Bates John J Young Edwin J EJ Ding Qiliang Q Shum Carole C D'Abate Lia L Bradley Clarrisa A CA Rutherford Annabel A Aguda Vernie V Apresto Beverly B Chen Nan N Desai Sachin S Du Xiaoyan X Fong Matthew L Y MLY Pullenayegum Sanjeev S Samler Kozue K Wang Ting T Ho Karen K Paton Tara T Pereira Sergio L SL Herbrick Jo-Anne JA Wintle Richard F RF Fuerth Jonathan J Noppornpitak Juti J Ward Heather H Magee Patrick P Al Baz Ayman A Kajendirarajah Usanthan U Kapadia Sharvari S Vlasblom Jim J Valluri Monica M Green Joseph J Seifer Vicki V Quirbach Morgan M Rennie Olivia O Kelley Elizabeth E Masjedi Nina N Lord Catherine C Szego Michael J MJ Zawati Ma'n H MH Lang Michael M Strug Lisa J LJ Marshall Christian R CR Costain Gregory G Calli Kristina K Iaboni Alana A Yusuf Afiqah A Ambrozewicz Patricia P Gallagher Louise L Amaral David G DG Brian Jessica J Elsabbagh Mayada M Georgiades Stelios S Messinger Daniel S DS Ozonoff Sally S Sebat Jonathan J Sjaarda Calvin C Smith Isabel M IM Szatmari Peter P Zwaigenbaum Lonnie L Kushki Azadeh A Frazier Thomas W TW Vorstman Jacob A S JAS Fakhro Khalid A KA Fernandez Bridget A BA Lewis M E Suzanne MES Weksberg Rosanna R Fiume Marc M Yuen Ryan K C RKC Anagnostou Evdokia E Sondheimer Neal N Glazer David D Hartley Dean M DM Scherer Stephen W SW
Cell 20221101 23
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 fr ...[more]
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