Documentation

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Publication Details

Results for Toma2013:

Summary

Title	Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations
Authors	Toma, C., Torrico, B., Hervás, A., Valdés-Mas, R., Tristán-Noguero, A., Padillo, V., Maristany, M., Salgado, M., Arenas, C., Puente, X.S., Bayés, M., Cormand, B.
Technology	Whole exome sequencing
Variant source	Supplementary Table 2. Rare variants shared by the affected siblings in each of the ten multiplex families.
Cohorts	Spain
Design	Multiplex
URL	https://dx.doi.org/10.1038/mp.2013.106
Pubmed	23999528
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	220
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	15
frameshift insertion	5
nonsynonymous SNV	181
other	3
stopgain	16

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.