Documentation

or

Publication Details

Results for Krupp2017:

Summary

Title	Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
Authors	Krupp, D.R., Barnard, R.A., Duffourd, Y., Evans, S.A., Mulqueen, R.M., Bernier, R., Rivière, J.-B., Fombonne, E., O’Roak, B.J.
Technology	Whole exome sequencing
Variant source	Table S5. Final High-confidence Variant Calls for SSC Cohort
Cohorts	Simons Simplex Collection
Design	Simplex
URL	https://dx.doi.org/10.1016/j.ajhg.2017.07.016
Pubmed	28867142
Subject count	948 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	1316
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonsynonymous SNV	889
other	1
splicing	25
stopgain	66
synonymous SNV	326
unknown	9

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.