Documentation

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Publication Details

Results for Yin2020:

Summary

Title	Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression
Authors	Yin, J., Chun, C.-A., Zavadenko, N.N., Pechatnikova, N.L., Naumova, O.Y., Doddapaneni, H.V., Hu, J., Muzny, D.M., Schaaf, C.P., Grigorenko, E.L.
Technology	Targeted sequencing
Variant source	Table 2
Cohorts	cohort from a specialized central medical center in Moscow, Russia
Design	simplex
URL	https://dx.doi.org/https://www.mdpi.com/2073-4425/11/8/853
Pubmed	32722525
Subject count	15 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	18
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonsynonymous SNV	17
splicing	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.