Documentation

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Publication Details

Results for An2014:

Summary

Title	Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach
Authors	An, J.Y., Cristino, A.S., Zhao, Q., Edson, J., Williams, S.M., Ravine, D., Wray, J., Marshall, V.M., Hunt, A., Whitehouse, A.J.O., Claudianos, C.
Technology	Whole exome sequencing
Variant source	Supplementary Table 3. The list of de novo variants identified in 48 ASD cases.
Cohorts	Western Australian Autism Biological Registry
Design	Case-control
URL	https://dx.doi.org/10.1038/tp.2014.38
Pubmed	24893065
Subject count	29 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	44
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift insertion	1
nonsynonymous SNV	19
other	14
stopgain	2
synonymous SNV	8

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.