Documentation

or

Publication Details

Results for Codina-Sola2015:

Summary

Title	Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders
Authors	Codina-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.
Technology	Whole exome sequencing
Variant source	Table S2. Variants selected for validation and segregation after filtering.
Cohorts	Spain
Design	Simplex, Multiplex
URL	https://dx.doi.org/10.1186/s13229-015-0017-0
Pubmed	25969726
Subject count	33 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	121
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	22
frameshift insertion	13
nonframeshift deletion	4
nonsynonymous SNV	41
other	7
splicing	7
stopgain	24
stoploss	1
unknown	2

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.