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Publication Details

Results for Yuen2016:

Summary

Title	Genome-wide characteristics of de novo mutations in autism
Authors	Yuen, R.K.C., Merico, D., Cao, H., Pellecchia, G., Alipanahi, B., Thiruvahindrapuram, B., Tong, X., Sun, Y., Cao, D., Zhang, T., Wu, X., Jin, X., Zhou, Z., Liu, X., Nalpathamkalam, T., Walker, S., Howe, J.L., Wang, Z., MacDonald, J.R., Chan, A., D’Abate,
Technology	Whole genome sequencing
Variant source	Supplementary Table 4. Summary of de novo SNVs detected; Supplementary Table 5. Summary of de novo indels detected
Cohorts	Canadian ASD families
Design	Simplex
URL	https://dx.doi.org/10.1038/npjgenmed.2016.27
Pubmed	27525107
Subject count	192 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	11088
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	11
frameshift insertion	6
nonframeshift deletion	3
nonsynonymous SNV	142
other	10868
splicing	4
stopgain	10
synonymous SNV	42
unknown	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.