Publication Details

Results for Neale2012:

Title Patterns and rates of exonic de novo mutations in autism spectrum disorders
AuthorsNeale, B.M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K.E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., Polak, P., Yoon, S., Maguire, J., Crawford, E.L., Campbell, N.G., Geller, E.T., Valladares, O., Schafer, C., Liu, H., Zhao, T., Cai, G.
TechnologyWhole exome sequencing
Variant sourceSupplementary Table 1: All validated de novo events and annotation.
CohortsBoston’s Autism Consortium, University of Illinois at Chicago, Mount Sinai School of Medicine, Vanderbilt University, University of Pittsburgh School of Medicine, Autism Genetic Resource Exchange
Subject count110
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 count176
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion4
frameshift insertion1
nonsynonymous SNV103
synonymous SNV50

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.