Documentation

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Publication Details

Results for Werling2018:

Summary

Title	An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder
Authors	Werling, D.M., Brand, H., An, J.-Y., Stone, M.R., Zhu, L., Glessner, J.T., Collins, R.L., Dong, S., Layer, R.M., Markenscoff-Papadimitriou, E., Farrell, A., Schwartz, G.B., Wang, H.Z., Currall, B.B., Zhao, X., Dea, J., Duhn, C., Erdman, C.A., Gilson, M.C.
Technology	Whole genome sequencing
Variant source	Supplementary Table 3
Cohorts	Simons Simplex Collection
Design	Simplex
URL	https://dx.doi.org/10.1038/s41588-018-0107-y
Pubmed	29700473
Subject count	231 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	339
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	1
other	338

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.