Documentation

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Publication Details

Results for Du2018:

Summary

Title	Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder
Authors	Du, X., Gao, X., Liu, X., Shen, L., Wang, K., Fan, Y., Sun, Y., Luo, X., Liu, H., Wang, L., Wang, Y., Gong, Z., Wang, J., Yu, Y., Li, F.
Technology	Whole exome sequencing
Variant source	Table 2. Clinical and molecular findings in children with positive results of WES
Cohorts	Department of Developmental Behavioral Pediatric and Children Healthcare at Xinhua Hospital, Shanghai, China
Design	simplex
URL	https://dx.doi.org/10.3389/fgene.2018.00594
Pubmed	30555518
Subject count	7 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	7
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift insertion	2
frameshift substitution	1
nonsynonymous SNV	3
stopgain	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.