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Genomic architecture of autism from comprehensive whole-genome sequence annotation.
- Trost, Brett;
- Thiruvahindrapuram, Bhooma;
- Chan, Ada;
- Engchuan, Worrawat;
- Higginbotham, Edward;
- Howe, Jennifer;
- Loureiro, Livia;
- Reuter, Miriam;
- Roshandel, Delnaz;
- Whitney, Joe;
- Zarrei, Mehdi;
- Bookman, Matthew;
- Somerville, Cherith;
- Shaath, Rulan;
- Abdi, Mona;
- Aliyev, Elbay;
- Patel, Rohan;
- Nalpathamkalam, Thomas;
- Pellecchia, Giovanna;
- Hamdan, Omar;
- Kaur, Gaganjot;
- Wang, Zhuozhi;
- MacDonald, Jeffrey;
- Wei, John;
- Sung, Wilson;
- Lamoureux, Sylvia;
- Hoang, Ny;
- Selvanayagam, Thanuja;
- Deflaux, Nicole;
- Geng, Melissa;
- Ghaffari, Siavash;
- Bates, John;
- Young, Edwin;
- Ding, Qiliang;
- Shum, Carole;
- DAbate, Lia;
- Bradley, Clarrisa;
- Rutherford, Annabel;
- Aguda, Vernie;
- Apresto, Beverly;
- Chen, Nan;
- Desai, Sachin;
- Du, Xiaoyan;
- Fong, Matthew;
- Pullenayegum, Sanjeev;
- Samler, Kozue;
- Wang, Ting;
- Ho, Karen;
- Paton, Tara;
- Pereira, Sergio;
- Herbrick, Jo-Anne;
- Wintle, Richard;
- 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;
- Zawati, Man;
- Lang, Michael;
- Strug, Lisa;
- Marshall, Christian;
- Costain, Gregory;
- Calli, Kristina;
- Iaboni, Alana;
- Yusuf, Afiqah;
- Ambrozewicz, Patricia;
- Gallagher, Louise;
- Amaral, David;
- Brian, Jessica;
- Elsabbagh, Mayada;
- Georgiades, Stelios;
- Messinger, Daniel;
- Sebat, Jonathan;
- Sjaarda, Calvin;
- Smith, Isabel;
- Szatmari, Peter;
- Zwaigenbaum, Lonnie;
- Kushki, Azadeh;
- Frazier, Thomas;
- Vorstman, Jacob;
- Fakhro, Khalid;
- Fernandez, Bridget;
- Lewis, M;
- Weksberg, Rosanna;
- Fiume, Marc;
- Yuen, Ryan;
- Anagnostou, Evdokia;
- Sondheimer, Neal;
- Glazer, David;
- Hartley, Dean;
- Scherer, Stephen;
- Ozonoff, Sally
- et al.
Published Web Location
https://doi.org/10.1016/j.cell.2022.10.009Abstract
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.
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