Documentation

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Publication Details

Results for Montenegro2019:

Summary

Title	Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort
Authors	Montenegro, E.M. da S., Costa, C.S., Campos, G., Scliar, M., Almeida, T.F. de, Zachi, E.C., Silva, I.M.W., Chan, A.J.S., Zarrei, M., Lourenço, N.C.V., Yamamoto, G.L., Scherer, S., Passos‐Bueno, M.R.
Technology	Whole Exome Sequencing
Variant source	Table 3
Cohorts	Brazilian cohort
Design	simplex
URL	https://dx.doi.org/10.1002/aur.2238
Pubmed	31696658
Subject count	15 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	19
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	1
nonsynonymous SNV	16
splicing	1
stopgain	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.