Documentation

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Publication Details

Results for Neale2012:

Summary

Title	Patterns and rates of exonic de novo mutations in autism spectrum disorders
Authors	Neale, B.M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K.E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., Polak, P., Yoon, S., Maguire, J., Crawford, E.L., Campbell, N.G., Geller, E.T., Valladares, O., Schafer, C., Liu, H., Zhao, T., Cai, G.
Technology	Whole exome sequencing
Variant source	Supplementary Table 1: All validated de novo events and annotation.
Cohorts	Boston’s Autism Consortium, University of Illinois at Chicago, Mount Sinai School of Medicine, Vanderbilt University, University of Pittsburgh School of Medicine, Autism Genetic Resource Exchange
Design	Simplex/Multiplex
URL	https://dx.doi.org/10.1038/nature11011
Pubmed	22495311
Subject count	110 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	176
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	4
frameshift insertion	1
nonsynonymous SNV	103
other	6
splicing	3
stopgain	9
synonymous SNV	50

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.