Documentation

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Publication Details

Results for Stessman2017:

Summary

Title	Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Authors	Stessman, H.A.F., Xiong, B., Coe, B.P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., Vives, L., Lin, J., Turner, T.N., Santen, G., Ruivenkamp, C., Kriek, M., van Haeringen, A., Aten, E., Friend, K., Liebelt, J.,
Technology	Targeted sequencing (208 genes)
Variant source	Supplementary Table 11. All private LGD and MIS30 events in this study, Supplementary Table 12. All DN smMIP events identified in the 208 genes screened in this study.
Cohorts	Autism Clinical and Genetic Resources in China, Autism Genetic Resource Exchange, Autism Phenome Project, Leuven, Melbourne, Murdoch, San Diego, The Autism Simplex Collection
Design	Simplex/Multiplex/Cases
URL	https://dx.doi.org/10.1038/ng.3792
Pubmed	28191889
Subject count	684 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	732
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	72
frameshift insertion	21
frameshift substitution	4
nonframeshift substitution	6
nonsynonymous SNV	482
other	6
splicing	47
stopgain	89
synonymous SNV	2
unknown	4

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.