Publication Details

Results for Krumm2015:

Title Excess of rare, inherited truncating mutations in autism
AuthorsKrumm, 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.
TechnologyWhole exome sequencing
Variant sourceSupplementary Table S1: All novel de novo SNVs identified in this study
CohortsSimons Simplex Collection
Subject count658
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 count846
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion12
frameshift insertion5
nonframeshift deletion4
nonframeshift insertion6
nonframeshift substitution12
nonsynonymous SNV311
synonymous SNV155

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.