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Publication Details

Results for Wang2020:

Summary
Title Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
AuthorsWang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B.P., Gillentine, M.A., Wilfert, A.B., Perez-Jurado, L.A., Kvarnung, M., Sleyp, Y., Earl, R.K., Rosenfeld, J.A., Geisheker, M.R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E.E., Zou, X., Ou, J., Li, H., Guo, H., Gerdts, J., Avola, E., Calabrese, C., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B., Vandeweyer, G.V., Dijck, A.V, Van der Aa, N., McKenna, B., Hancarova, M., Bendova, S. Havlovicova, M., Malerba, G., Bernardina, B.D., Muglia, P., Haeringen, A.V., Hoffer, M.J.V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P.J., Manning, M.A., Liu, P., Scheffer, I.E., Brunetti-Pierri, N., Rommelse, N., Amaral, D.G., Santen, G.W.E.,Trabetti, E., Sedláček, Z., Michaelson, J.J, Pierce, K., Courchesne, E., Kooy, R.F., The SPARK Consortium, Nordenskjöld, M., Romano, C., Peeters, H., Bernier, R.A., Gecz, J., Xia, K. & Eichler, E.E
TechnologyTargeted sequencing
Variant sourceSupplementary datasets: 4, 5, 6, 8, 9, 11, 12
CohortsACGC, Leuven, AGRE, San Diego, TASC, Iowa, SAGE, ITAN, Autism Phenome Project, Radboudumc, Naples, Melbourne
Designcase-control and trios
URLhttps://dx.doi.org/https://www-nature-com.ezproxy.library.ubc.ca/articles/s41467-020-18723-y
Pubmed33004838
Subject count1764
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 count1850
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion225
frameshift insertion79
frameshift substitution6
nonframeshift deletion3
nonframeshift substitution2
nonsynonymous SNV1147
other6
splicing96
stopgain234
stoploss3
synonymous SNV12
unknown40

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.