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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
AuthorsMontenegro, 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.
TechnologyWhole Exome Sequencing
Variant sourceTable 3
CohortsBrazilian cohort
Designsimplex
URLhttps://dx.doi.org/10.1002/aur.2238
Pubmed31696658
Subject count15
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 count19
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion1
nonsynonymous SNV16
splicing1
stopgain1

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.