Documentation

or

Publication Details

Results for Zhang2023:

Summary

Title	Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests
Authors	Zhang, Y., Li, Y., Guo, R., Xu, Wenjian, Liu, X., Zhao, C., Guo, Q., Xu, Wenshan, Ni, X., Hao, C., Cui, Y., Li, W.
Technology	WGS
Variant source	Table 3
Cohorts	Beijing Children’s Hospital
Design	simplex
URL	https://dx.doi.org/10.3389/fgene.2023.1108440
Pubmed	37035742
Subject count	10 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	10
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	4
frameshift insertion	1
splicing	2
stopgain	3

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.