Publication Details

Results for Chen2017:

Title Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism
AuthorsChen, R., Davis, L.K., Guter, S., Wei, Q., Jacob, S., Potter, M.H., Cox, N.J., Cook, E.H., Sutcliffe, J.S., Li, B.
TechnologyWhole exome sequencing
Variant sourceTable S1: List of all DNVs.
CohortsUniversity of Illinois at Chicago ACE project
Design116 trios
Subject count128
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 count128
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion2
frameshift insertion3
nonsynonymous SNV84
synonymous SNV21

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.