Documentation

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Publication Details

Results for Jiang2013:

Summary

Title	Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
Authors	Jiang, Y., Yuen, R.K.C., Jin, X., Wang, M., Chen, N., Wu, X., Ju, J., Mei, J., Shi, Y., He, M., Wang, G., Liang, J., Wang, Z., Cao, D., Carter, M.T., Chrysler, C., Drmic, I.E., Howe, J.L., Lau, L., Marshall, C.R., Merico, D., Nalpathamkalam, T., Thiruvahi
Technology	Whole genome sequencing
Variant source	Table S5. Annotations of ASD clinically relevant variants
Cohorts	Autism Genetic Resource Exchange
Design	Simplex
URL	https://dx.doi.org/10.1016/j.ajhg.2013.06.012
Pubmed	23849776
Subject count	30 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	56
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	1
frameshift insertion	2
nonsynonymous SNV	44
splicing	1
stopgain	3
synonymous SNV	5

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.