Documentation

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Publication Details

Results for Cukier2014:

Summary

Title	Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders
Authors	Cukier, H.N., Dueker, N.D., Slifer, S.H., Lee, J.M., Whitehead, P.L., Lalanne, E., Leyva, N., Konidari, I., Gentry, R.C., Hulme, W.F., Booven, D.V., Mayo, V., Hofmann, N.K., Schmidt, M.A., Martin, E.R., Haines, J.L., Cuccaro, M.L., Gilbert, J.R., Pericak-
Technology	Whole exome sequencing
Variant source	Table S4. Variants identified in exome sequencing and validated by a second platform.
Cohorts	Florida, South Carolina, Tennessee
Design	Multiplex
URL	https://dx.doi.org/10.1186/2040-2392-5-1
Pubmed	24410847
Subject count	41 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	518
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonsynonymous SNV	493
other	5
splicing	6
stopgain	10
unknown	4

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.