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Publication Details

Results for Feliciano2019:

Summary
Title Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes
AuthorsFeliciano, P., Zhou, X., Astrovskaya, I., Turner, T.N., Wang, T., Brueggeman, L., Barnard, R., Hsieh, A., Snyder, L.G., Muzny, D.M., Sabo, A., Gibbs, R.A., Eichler, E.E., O’Roak, B.J., Michaelson, J.J., Volfovsky, N., Shen, Y., Chung, W.K.
TechnologyWhole Exome Sequencing
Variant sourceSupplementary 1,3 and 6
CohortsSPARK
DesignSimplex/Multiplex
URLhttps://dx.doi.org/10.1038/s41525-019-0093-8
Pubmed31452935
Subject count364
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 count717
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion26
frameshift insertion16
nonframeshift deletion7
nonframeshift insertion2
nonframeshift substitution2
nonsynonymous SNV410
other12
splicing23
stopgain33
synonymous SNV180
unknown7

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.