Documentation

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Publication Details

Results for Al-Mubarak2017:

Summary

Title	Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.
Authors	Al-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
Technology	Whole exome sequencing
Variant source	Supplementary Table S4. Predictive mutation assessment software scores.
Cohorts	Saudi Arabia
Design	Simplex
URL	https://dx.doi.org/10.1038/s41598-017-06033-1
Pubmed	28720891
Subject count	17 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 deletion	3
frameshift insertion	1
nonsynonymous SNV	35
other	4
splicing	1
stopgain	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.