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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
AuthorsJiang, 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
TechnologyWhole genome sequencing
Variant sourceTable S5. Annotations of ASD clinically relevant variants
CohortsAutism Genetic Resource Exchange
DesignSimplex
URLhttps://dx.doi.org/10.1016/j.ajhg.2013.06.012
Pubmed23849776
Subject count30
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 count56
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion1
frameshift insertion2
nonsynonymous SNV44
splicing1
stopgain3
synonymous SNV5

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.