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Publication Details

Results for Jiao2019:

Summary
Title dentification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Exome Sequencing in a Chinese Child and Adolescent Trio-Based Sample
AuthorsJiao, J., Zhang, M., Yang, P., Huang, Yan, Hu, X., Cai, J., Yang, C., Situ, M., Zhang, H., Fu, L., Guo, K., Huang, Yi
TechnologyWhole Exome Sequencing
Variant sourceTable S3
CohortsChengdu city
DesignSimplex
URLhttps://dx.doi.org/10.1007/s12031-019-01456-z
Pubmed31838722
Subject count19
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 count26
Curation notesView
Breakdown by exonic function
FunctionVariant Count
nonsynonymous SNV26

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.