Documentation

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Publication Details

Results for Ishay2021:

Summary

Title	Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel
Authors	Tal-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.
Technology	Whole exome sequencing
Variant source	Table S3: List of identified ASD candidate variants
Cohorts	National Autism Research Center of Israel (NARCI)
Design	Trios, multiplex
URL	https://dx.doi.org/10.3390/genes13010036
Pubmed	35052376
Subject count	36 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	36
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	3
frameshift insertion	1
nonsynonymous SNV	28
stopgain	3
unknown	1

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.