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Publication Details

Results for Codina-Sola2015:

Summary
Title Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders
AuthorsCodina-Solà, M., Rodríguez-Santiago, B., Homs, A., Santoyo, J., Rigau, M., Aznar-Laín, G., Campo, M. del, Gener, B., Gabau, E., Botella, M.P., Gutiérrez-Arumí, A., Antiñolo, G., Pérez-Jurado, L.A., Cuscó, I.
TechnologyWhole exome sequencing
Variant sourceTable S2. Variants selected for validation and segregation after filtering.
CohortsSpain
DesignSimplex, Multiplex
URLhttps://dx.doi.org/10.1186/s13229-015-0017-0
Pubmed25969726
Subject count33
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 count121
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion22
frameshift insertion13
nonframeshift deletion4
nonsynonymous SNV41
other7
splicing7
stopgain24
stoploss1
unknown2

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.