Documentation

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Publication Details

Results for Turner2016:

Summary

Title	Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
Authors	Turner, T.N., Hormozdiari, F., Duyzend, M.H., McClymont, S.A., Hook, P.W., Iossifov, I., Raja, A., Baker, C., Hoekzema, K., Stessman, H.A., Zody, M.C., Nelson, B.J., Huddleston, J., Sandstrom, R., Smith, J.D., Hanna, D., Swanson, J.M., Faustman, E.M., Bam
Technology	Whole genome sequencing
Variant source	Table S9. All de novo
Cohorts	Simons Simplex Collection
Design	Simplex
URL	https://dx.doi.org/10.1016/j.ajhg.2015.11.023
Pubmed	26749308
Subject count	40 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	3790
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonframeshift deletion	1
nonsynonymous SNV	33
other	3735
splicing	2
synonymous SNV	19

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.