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Publication Details

Results for Kim2020:

Summary
Title Whole Exome Sequencing Identifies Novel De Novo Variants Interacting with Six Gene Networks in Autism Spectrum Disorder
AuthorsKim, N., Kim, K.H., Lim, W., Kim, J., Kim, S.A., Yoo, H.J.
TechnologyWhole Exome Sequencing
Variant sourceTable 2. De novo mutations observed in 51 Korean ASD trios.
CohortsKorean Cohort
Designsimplex
URLhttps://dx.doi.org/https://dx.doi.org/10.3390/genes12010001
Pubmed33374967
Subject count26
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 count35
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion2
nonsynonymous SNV27
other3
splicing1
stopgain1
unknown1

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.