Documentation

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Publication Details

Results for Leblond2019:

Summary

Title	Both rare and common genetic variants contribute to autism in the Faroe Islands
Authors	Leblond, 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.
Technology	Whole exome sequencing
Variant source	Table S2, Table S7, Table S8
Cohorts	Faroe Island
Design	Case-control,
URL	https://dx.doi.org/10.1038/s41525-018-0075-2
Pubmed	30675382
Subject count	196 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	6768
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	1001
frameshift insertion	1001
nonframeshift deletion	160
nonsynonymous SNV	3030
other	566
splicing	46
stopgain	1057
stoploss	9
synonymous SNV	24
unknown	28

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.