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Publication Details

Results for Leblond2019:

Summary
Title Both rare and common genetic variants contribute to autism in the Faroe Islands
AuthorsLeblond, C.S., Cliquet, F., Carton, C., Huguet, G., Mathieu, A., Kergrohen, T., Buratti, J., Lemière, N., Cuisset, L., Bienvenu, T., Boland, A., Deleuze, J.-F., Stora, T., Biskupstoe, R., Halling, J., Andorsdóttir, G., Billstedt, E., Gillberg, C., Bourgeron, T.
TechnologyWhole exome sequencing
Variant sourceTable S2, Table S7, Table S8
CohortsFaroe Island
DesignCase-control,
URLhttps://dx.doi.org/10.1038/s41525-018-0075-2
Pubmed30675382
Subject count196
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 count6768
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion1001
frameshift insertion1001
nonframeshift deletion160
nonsynonymous SNV3030
other566
splicing46
stopgain1057
stoploss9
synonymous SNV24
unknown28

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.