Documentation

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Publication Details

Results for Lee2020:

Summary

Title	Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy
Authors	Lee, J., Ha, S., Lee, S-T., Park, S-G., Shin, S., Choi. J.R., Cheon, K-A.
Technology	Targeted sequencing (4,503 genes)
Variant source	Tables: 3, 4, 5
Cohorts	Korean (Severance Children’s Hospital ) cohort
Design	simplex
URL	https://dx.doi.org/doi: 10.3389/fphar.2020.00585
Pubmed	32477112
Subject count	19 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	22
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	1
frameshift insertion	1
nonframeshift deletion	1
nonsynonymous SNV	10
other	1
splicing	3
stopgain	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.