Documentation

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Publication Details

Results for Kenny2014:

Summary

Title	Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders
Authors	Kenny, E.M., Cormican, P., Furlong, S., Heron, E., Kenny, G., Fahey, C., Kelleher, E., Ennis, S., Tropea, D., Anney, R., Corvin, A.P., Donohoe, G., Gallagher, L., Gill, M., Morris, D.W.
Technology	Targeted sequencing (215 genes)
Variant source	Table 1. Rare LoF variants in SZ, ASD and controls
Cohorts	Ireland
Design	Case-control
URL	https://dx.doi.org/10.1038/mp.2013.127
Pubmed	24126926
Subject count	10 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	10
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	2
splicing	5
stopgain	3

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.