Documentation

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Publication Details

Results for Chen2021:

Summary

Title	Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort
Authors	Chen, S., Xiong, J., Chen, B., Zhang, C., Deng, X., He, F., Yang, L., Chen, C., Peng, J., Yin, F.
Technology	whole genome sequencing, whole exome sequencing, gene panel, Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA)
Variant source	Supplementary data 1
Cohorts	Pediatric cohort from Xiangya Hospital, Central South University
Design	simplex
URL	https://dx.doi.org/10.1016/j.cca.2021.11.014
Pubmed	34800434
Subject count	70 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	77
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	11
frameshift insertion	4
nonframeshift insertion	1
nonsynonymous SNV	42
other	1
splicing	5
stopgain	13

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.