Documentation

or

Publication Details

Results for Abdi2023:

Summary

Title	Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study
Authors	Abdi, M., Aliyev, E., Trost, B., Kohailan, M., Aamer, W., Syed, N., Shaath, R., Gandhi, G.D., Engchuan, W., Howe, J., Thiruvahindrapuram, B., Geng, M., Whitney, J., Syed, A., Lakshmi, J., Hussein, S., Albashir, N., Hussein, A., Poggiolini, I., Elhag, S.F., Palaniswamy, S., Kambouris, M., de Fatima Janjua, M., Tahir, M.O.E., Nazeer, A., Shahwar, D., Azeem, M.W., Mokrab, Y., Aati, N.A., Akil, A., Scherer, S.W., Kamal, M., Fakhro, K.A.
Technology	WGS
Variant source	Tables 2,3,4s
Cohorts	BARAKA-Qatar study cohort
Design	simplex, multiplex
URL	https://dx.doi.org/10.1186/s13073-023-01228-w
Pubmed	37805537
Subject count	44 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	47
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift insertion	1
nonsynonymous SNV	38
splicing	2
stopgain	3
unknown	3

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.