Publication Details

Results for Shi2013:

Title Whole-genome sequencing in an autism multiplex family
AuthorsShi, L., Zhang, X., Golhar, R., Otieno, F.G., He, M., Hou, C., Kim, C., Keating, B., Lyon, G.J., Wang, K., Hakonarson, H.
TechnologyWhole genome sequencing
Variant sourceTable S3. A list of prioritized exonic/splicing variants that are shared between two probands and are predicted to be deleterious
CohortsAutism Genetic Resource Exchange
Subject count2
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 count118
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion2
frameshift insertion4
frameshift substitution6
nonsynonymous SNV100

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.