Publication Details

Results for Chen2021:

Title Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort
AuthorsChen, S., Xiong, J., Chen, B., Zhang, C., Deng, X., He, F., Yang, L., Chen, C., Peng, J., Yin, F.
Technologywhole genome sequencing, whole exome sequencing, gene panel, Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA)
Variant sourceSupplementary data 1
CohortsPediatric cohort from Xiangya Hospital, Central South University
Subject count70
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 count77
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion11
frameshift insertion4
nonframeshift insertion1
nonsynonymous SNV42

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.