Documentation

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Publication Details

Results for Yuen2015:

Summary

Title	Whole-genome sequencing of quartet families with autism spectrum disorder
Authors	Yuen, R.K.C., Thiruvahindrapuram, B., Merico, D., Walker, S., Tammimies, K., Hoang, N., Chrysler, C., Nalpathamkalam, T., Pellecchia, G., Liu, Y., Gazzellone, M.J., D’Abate, L., Deneault, E., Howe, J.L., Liu, R.S.C., Thompson, A., Zarrei, M., Uddin, M., M
Technology	Whole genome sequencing
Variant source	Supplementary Table 3. Summary of de novo exonic indels and SNVs
Cohorts	Canada
Design	Multiplex
URL	https://dx.doi.org/10.1038/nm.3792
Pubmed	25621899
Subject count	121 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	204
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	9
frameshift insertion	4
nonsynonymous SNV	136
splicing	1
stopgain	2
synonymous SNV	52

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.