Documentation

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Publication Details

Results for More2023:

Summary

Title	Identifying rare genetic variants in 21 highly multiplex autism families: the role of diagnosis and autistic traits
Authors	More, R.P., Warrier, V., Brunel, H., Buckingham, C., Smith, P., Allison, C., Holt, R., Bradshaw, C.R., Baron-Cohen, S.
Technology	WGS
Variant source
Cohorts	21 highly multiplex families (3 or more individuals affected in the immediate family)
Design	multiplex
URL	https://dx.doi.org/10.1038/s41380-022-01938-4
Pubmed	36702863
Subject count	13 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	43
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	1
nonsynonymous SNV	42

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.