Documentation

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Publication Details

Results for Chahrour2012:

Summary

Title	Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism
Authors	Chahrour, M.H., Yu, T.W., Lim, E.T., Ataman, B., Coulter, M.E., Hill, R.S., Stevens, C.R., Schubert, C.R., Greenberg, M.E., Gabriel, S.B., Walsh, C.A.
Technology	Whole exome sequencing
Variant source	Table S5. Candidate autism genes that contain compound heterozygous variants; Table S6. Hemizygous variants on the X chromosome
Cohorts	Autism Genetic Resource Exchange
Design	Simplex/Multiplex
URL	https://dx.doi.org/10.1371/journal.pgen.1002635
Pubmed	22511880
Subject count	12 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	64
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonframeshift deletion	1
nonsynonymous SNV	62
other	1

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.