Publication Details

Results for O’Roak2012b:

Title Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
AuthorsO’Roak, B.J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B.P., Levy, R., Ko, A., Lee, C., Smith, J.D., Turner, E.H., Stanaway, I.B., Vernot, B., Malig, M., Baker, C., Reilly, B., Akey, J.M., Borenstein, E., Rieder, M.J., Nickerson, D.A., Berni
TechnologyWhole exome sequencing
Variant sourceSupplementary Table 3: All 242 de novo point mutations found in 189 trios
CohortsSimons Simplex Collection
Subject count136
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 count243
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion12
frameshift insertion1
frameshift substitution2
nonframeshift deletion2
nonsynonymous SNV144
synonymous SNV59

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.