Documentation

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Publication Details

Results for Wu2019:

Summary

Title	Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort
Authors	Wu, H., Li, H., Bai, T., Han, L., Ou, J., Xun, G., Zhang, Y., Wang, Y., Duan, G., Zhao, N., Chen, B., Du, X., Yao, M., Zou, X., Zhao, J., Hu, Z., Eichler, E.E., Guo, H., Xia, K.
Technology	Whole Exome Sequencing
Variant source	Table S2 and S4
Cohorts	Autism Clinical and Genetic Resources
Design	Simplex/ Case-control
URL	https://dx.doi.org/10.1111/cge.13665
Pubmed	31674007
Subject count	16 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	18
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	2
frameshift insertion	1
nonframeshift deletion	2
nonsynonymous SNV	11
stopgain	2

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.