Publication Details

Results for Wang2020:

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, 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.
Technologytargeted sequencing
Variant sourceSupplementary Datasets 5,8,9,11,12
CohortsAutism Spectrum/Intellectual Disability (ASID) network (Adelaide, ACGC, Troina, Leuven, University of Iowa, AGRE, Charles University of Czech Republic, Italian Autism Network)
Designtrios, case-control
Subject count1818
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 count1891
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion224
frameshift insertion79
frameshift substitution6
nonframeshift deletion3
nonframeshift substitution5
nonsynonymous SNV1173
synonymous SNV13

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.