Documentation

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Publication Details

Results for Wang2020:

Summary

Title	Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Authors	Wang, 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, G., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B.-M., Vandeweyer, G., Van Dijck, A., Van der Aa, N., McKenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B.D., Muglia, P., van Haeringen, A., 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., SPARK Consortium, Nordenskjöld, M., Romano, C., Peeters, H., Bernier, R.A., Gecz, J., Xia, K., Eichler, E.E.
Technology	targeted sequencing
Variant source	Supplementary Datasets 5,8,9,11,12
Cohorts	Autism Spectrum/Intellectual Disability (ASID) network (Adelaide, ACGC, Troina, Leuven, University of Iowa, AGRE, Charles University of Czech Republic, Italian Autism Network)
Design	trios, case-control
URL	https://dx.doi.org/10.1038/s41467-020-18723-y
Pubmed	33004838
Subject count	1818 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 count	1891
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	224
frameshift insertion	79
frameshift substitution	6
nonframeshift deletion	3
nonframeshift substitution	5
nonsynonymous SNV	1173
other	6
splicing	97
stopgain	242
stoploss	3
synonymous SNV	13
unknown	42

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.