Documentation

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Publication Details

Results for Krumm2015:

Summary

Title	Excess of rare, inherited truncating mutations in autism
Authors	Krumm, N., Turner, T.N., Baker, C., Vives, L., Mohajeri, K., Witherspoon, K., Raja, A., Coe, B.P., Stessman, H.A., He, Z.-X., Leal, S.M., Bernier, R., Eichler, E.E.
Technology	Whole exome sequencing
Variant source	Supplementary Table S1: All novel de novo SNVs identified in this study
Cohorts	Simons Simplex Collection
Design	Simplex
URL	https://dx.doi.org/10.1038/ng.3303
Pubmed	25961944
Subject count	658 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	846
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	12
frameshift insertion	5
nonframeshift deletion	4
nonframeshift insertion	6
nonframeshift substitution	12
nonsynonymous SNV	311
other	316
splicing	10
stopgain	9
synonymous SNV	155
unknown	6

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.