Documentation

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Publication Details

Results for Ben-Mahmoud2024:

Summary

Title	Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort
Authors	Ben-Mahmoud, A., Gupta, V., Abdelaleem, A., Thompson, R., Aden, A., Mbarek, H., Saad, C., Tolefat, M., Alshaban, F., Stanton, L.W., Kim, H.-G.
Technology	WGS
Variant source	Table 1 and 2
Cohorts	Shafallah Center for Persons with Disabilities (Doha, Qatar)
Design	simplex
URL	https://dx.doi.org/10.3390/ijms252111551
Pubmed	39519104
Subject count	48 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	64
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	1
nonsynonymous SNV	51
other	7
splicing	1
stopgain	4

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.