Publication Details

Results for Trost2022:

Title Genomic architecture of autism from comprehensive whole-genome sequence annotation
AuthorsTrost, 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., Baz, A.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.
Variant sourceSupplemental Table S2C
Designsimplex, multiplex
Subject count15960
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count144111
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion800
frameshift insertion356
frameshift substitution22
nonframeshift deletion208
nonframeshift insertion60
nonframeshift substitution82
nonsynonymous SNV13041
synonymous SNV5368

What am I looking at?

Summary: Information from the literature piece (e.g. Author, Publisher, DOI) and the study experimental design (e.g. sample size, source of probands, sequencing technology.) For a full list of sources of variants, be sure to check out the publications page. Documentation and description of our work can be found on the help page.

Breakdown by exonic function: We annotated the variants with an effect prediction using ANNOVAR. The functions are categories of variants, such as frameshift variants (i.e. frameshift_elongation (SO:0001909)), loss/gain of stop codon, SNVs and non-frameshift variants. See the full list of possible annotations for exonic variants in the documentation.