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Publication Details

Results for Moreno-Ramos2015:

Summary

Title	Whole-Exome Sequencing in a South American Cohort Links ALDH1A3, FOXN1 and Retinoic Acid Regulation Pathways to Autism Spectrum Disorders
Authors	Moreno-Ramos, O.A., Olivares, A.M., Haider, N.B., de Autismo, L.C., Lattig, M.C.
Technology	Whole exome sequencing
Variant source	Table 1: Non-inherited variants found in families Fam07 y Fam10
Cohorts	Liga Colombiana de Autismo
Design	Simplex
URL	https://dx.doi.org/10.1371/journal.pone.0135927
Pubmed	26352270
Subject count	2 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	4
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonsynonymous SNV	2
other	1
synonymous SNV	1

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.