Documentation

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Publication Details

Results for Feliciano2019:

Summary

Title	Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes
Authors	Feliciano, P., Zhou, X., Astrovskaya, I., Turner, T.N., Wang, T., Brueggeman, L., Barnard, R., Hsieh, A., Snyder, L.G., Muzny, D.M., Sabo, A., Gibbs, R.A., Eichler, E.E., O’Roak, B.J., Michaelson, J.J., Volfovsky, N., Shen, Y., Chung, W.K.
Technology	Whole Exome Sequencing
Variant source	Supplementary 1,3 and 6
Cohorts	SPARK
Design	Simplex/Multiplex
URL	https://dx.doi.org/10.1038/s41525-019-0093-8
Pubmed	31452935
Subject count	364 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	717
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	26
frameshift insertion	16
nonframeshift deletion	7
nonframeshift insertion	2
nonframeshift substitution	2
nonsynonymous SNV	410
other	12
splicing	23
stopgain	33
synonymous SNV	180
unknown	7

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.