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Publication Details

Results for Krupp2017:

Summary
Title Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
AuthorsKrupp, D.R., Barnard, R.A., Duffourd, Y., Evans, S.A., Mulqueen, R.M., Bernier, R., Rivière, J.-B., Fombonne, E., O’Roak, B.J.
TechnologyWhole exome sequencing
Variant sourceTable S5. Final High-confidence Variant Calls for SSC Cohort
CohortsSimons Simplex Collection
DesignSimplex
URLhttps://dx.doi.org/10.1016/j.ajhg.2017.07.016
Pubmed28867142
Subject count948
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 count1316
Curation notesView
Breakdown by exonic function
FunctionVariant Count
nonsynonymous SNV889
other1
splicing25
stopgain66
synonymous SNV326
unknown9

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.