Documentation

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Publication Details

Results for Yu2013:

Summary

Title	Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
Authors	Yu, T.W., Chahrour, M.H., Coulter, M.E., Jiralerspong, S., Okamura-Ikeda, K., Ataman, B., Schmitz-Abe, K., Harmin, D.A., Adli, M., Malik, A.N., D’Gama, A.M., Lim, E.T., Sanders, S.J., Mochida, G.H., Partlow, J.N., Sunu, C.M., Felie, J.M., Rodriguez, J., N
Technology	Whole exome sequencing
Variant source	Table S4. Mutations in genes reported to be associated with autism and/or intellectual disability
Cohorts	Homozygosity Mapping Collaborative for Autism
Design	Simplex/Multiplex
URL	https://dx.doi.org/10.1016/j.neuron.2012.11.002
Pubmed	23352163
Subject count	20 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	20
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift insertion	1
nonframeshift deletion	1
nonsynonymous SNV	15
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.