Documentation

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Publication Details

Results for Chen2017:

Summary

Title	Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism
Authors	Chen, R., Davis, L.K., Guter, S., Wei, Q., Jacob, S., Potter, M.H., Cox, N.J., Cook, E.H., Sutcliffe, J.S., Li, B.
Technology	Whole exome sequencing
Variant source	Table S1: List of all DNVs.
Cohorts	University of Illinois at Chicago ACE project
Design	116 trios
URL	https://dx.doi.org/10.1186/s13229-017-0130-3
Pubmed	28344757
Subject count	128 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 count	128
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	2
frameshift insertion	3
nonsynonymous SNV	84
other	7
splicing	4
stopgain	7
synonymous SNV	21

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.