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Cited by 270

The DOI matches its Crossref record; 127 of the 127 references it cites were found in a registry or an index.

Genomic architecture of autism from comprehensive whole-genome sequence annotation

Open access
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.·2022·Cell
DOI 10.1016/j.cell.2022.10.009
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Abstract

SUMMARY 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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Authors
Trost, B., Thiruvahindrapuram, B., Chan, A. J. S., Engchuan, W., Higginbotham, E. J., Howe, J. L., Loureiro, L. O., Reuter, M. S., Roshandel, D., Whitney, J., Zarrei, M., Bookman, M., Somerville, C., Shaath, R., Abdi, M., Aliyev, E., Patel, R. V., Nalpathamkalam, T., Pellecchia, G., Hamdan, O., Kaur, G., Wang, Z., MacDonald, J. R., Wei, J., Sung, W. W. L., Lamoureux, S., Hoang, N., Selvanayagam, T., Deflaux, N., Geng, M., Ghaffari, S., Bates, J., Young, E. J., Ding, Q., Shum, C., D'Abate, L., Bradley, C. A., Rutherford, A., Aguda, V., Apresto, B., Chen, N., Desai, S., Du, X., Fong, M. L. Y., Pullenayegum, S., Samler, K., Wang, T., Ho, K., Paton, T., Pereira, S. L., Herbrick, J.-A., Wintle, R. F., Fuerth, J., Noppornpitak, J., Ward, H., Magee, P., Al Baz, A., Kajendirarajah, U., Kapadia, S., Vlasblom, J., Valluri, M., Green, J., Seifer, V., Quirbach, M., Rennie, O., Kelley, E., Masjedi, N., Lord, C., Szego, M. J., Zawati, M. H., Lang, M., Strug, L. J., Marshall, C. R., Costain, G., Calli, K., Iaboni, A., Yusuf, A., Ambrozewicz, P., Gallagher, L., Amaral, D. G., Brian, J., Elsabbagh, M., Georgiades, S., Messinger, D. S., Ozonoff, S., Sebat, J., Sjaarda, C., Smith, I. M., Szatmari, P., Zwaigenbaum, L., Kushki, A., Frazier, T. W., Vorstman, J. A. S., Fakhro, K. A., Fernandez, B. A., Lewis, M. E. S., Weksberg, R., Fiume, M., Yuen, R. K. C., Anagnostou, E., Sondheimer, N., Glazer, D., Hartley, D. M., & Scherer, S. W.
Venue
Cell
Publisher
Elsevier BV
Published
2022-11
Volume
185
Issue
23
Pages
4409-4427.e18
ISSN
0092-8674 (ISSN-L)
DOI
10.1016/j.cell.2022.10.009
OpenAlex
W4308906825
Cited by
270
References
127
FWCI
25.88
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: Genomic architecture of autism from comprehensive whole-genome sequence annotation. https://app.cochat.ai/papers/10.1016/j.cell.2022.10.009
The paper
Trost, B., Thiruvahindrapuram, B., Chan, A. J. S., Engchuan, W., Higginbotham, E. J., Howe, J. L., Loureiro, L. O., Reuter, M. S., Roshandel, D., Whitney, J., Zarrei, M., Bookman, M., Somerville, C., Shaath, R., Abdi, M., Aliyev, E., Patel, R. V., Nalpathamkalam, T., Pellecchia, G., . . . Scherer, S. W. (2022). Genomic architecture of autism from comprehensive whole-genome sequence annotation. Cell. https://doi.org/10.1016/j.cell.2022.10.009

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.