Documentation

or

Publication Details

Results for Husson2020:

Summary

Title	Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
Authors	Husson, T., Lecoquierre, F., Cassinari, K., Charbonnier, C., Quenez, O., Goldenberg, A., Guerrot, A.-M., Richard, A.-C., Drouin-Garraud, V., Brehin, A.-C., Soleimani, M., Taton, R., Rotharmel, M., Rosier, A., Chambon, P., Le Meur, N., Joly-Helas, G., Saugier-Veber, P., Boland, A., Deleuze, J.-F., Olaso, R., Frebourg, T., Nicolas, G., Guillin, O., Campion, D.
Technology	Whole exome sequencing
Variant source	Table 3
Cohorts	France
Design	Simplex
URL	https://dx.doi.org/doi.org/10.1038/s41398-020-0760-7
Pubmed	32094338
Subject count	32 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	32
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	11
frameshift insertion	3
nonsynonymous SNV	4
splicing	4
stopgain	9
stoploss	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.