Documentation

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Publication Details

Results for Xiong2019:

Summary

Title	Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes
Authors	Xiong, J., Chen, S., Pang, N., Deng, X., Yang, L., He, F., Wu, L., Chen, C., Yin, F., Peng, J.
Technology	Whole exome sequencing, targeted sequencing
Variant source	Table S1: Clinical features and genetic information of all subjects in the cohort (ASD Group)
Cohorts	Pediatric department of Xiangya Hospital at Central South University (2014-2018)
Design	simplex
URL	https://dx.doi.org/10.3389/fnins.2019.00349
Pubmed	31031587
Subject count	47 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	51
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	8
frameshift insertion	4
nonsynonymous SNV	27
splicing	3
stopgain	9

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.