Publication Details

Results for Al-Mubarak2017:

Title Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.
AuthorsAl-Mubarak, B., Abouelhoda, M., Omar, A., AlDhalaan, H., Aldosari, M., Nester, M., Alshamrani, H.A., El-Kalioby, M., Goljan, E., Albar, R., Subhani, S., Tahir, A., Asfahani, S., Eskandrani, A., Almusaiab, A., Magrashi, A., Shinwari, J., Monies, D., Al Tas
TechnologyWhole exome sequencing
Variant sourceSupplementary Table S4. Predictive mutation assessment software scores.
CohortsSaudi Arabia
Subject count17
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 count47
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion3
frameshift insertion1
nonsynonymous SNV35

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.