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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
Authors	Kim, N., Kim, K.H., Lim, W., Kim, J., Kim, S.A., Yoo, H.J.
Technology	Whole Exome Sequencing
Variant source	Table 2. De novo mutations observed in 51 Korean ASD trios.
Cohorts	Korean Cohort
Design	simplex
URL	https://dx.doi.org/https://dx.doi.org/10.3390/genes12010001
Pubmed	33374967
Subject count	26 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	35
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	2
nonsynonymous SNV	27
other	3
splicing	1
stopgain	1
unknown	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.