Publication Details

Results for Iossifov2012:

Title De Novo Gene Disruptions in Children on the Autistic Spectrum
AuthorsIossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., Yamrom, B., Lee, Y., Narzisi, G., Leotta, A., Kendall, J., Grabowska, E., Ma, B., Marks, S., Rodgers, L., Stepansky, A., Troge, J., Andrews, P., Bekritsky, M., Pradhan, K., Ghiban,
TechnologyWhole exome sequencing
Variant sourceTable S1. Complete List of SNVs Detected in 343 SSC Families; Table S3. Complete List of Indel Variants Detected in 343 SSC Families
CohortsSimons Simplex Collection
Subject count243
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 count444
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion20
frameshift insertion10
nonframeshift deletion7
nonsynonymous SNV205
synonymous SNV84

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.