Publication Details

Results for Ishay2021:

Title Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel
AuthorsTal-Ben Ishay, R., Shil, A., Solomon, S., Sadigurschi, N., Abu-Kaf, H., Meiri, G., Flusser, H., Michaelovski, A., Dinstein, I., Golan, H., Davidovitch, N., Menashe, I.
TechnologyWhole exome sequencing
Variant sourceTable S3: List of identified ASD candidate variants
CohortsNational Autism Research Center of Israel (NARCI)
DesignTrios, multiplex
Subject count36
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 count36
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion3
frameshift insertion1
nonsynonymous SNV28

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.