Documentation

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Publication Details

Results for Lob2024:

Summary

Title	Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD
Authors	Lob, K., Sawka, D.M., Gaitanis, J.N., Liu, J.S., Nie, D.A.
Technology	WES, targeted
Variant source	Supplementary Table 1
Cohorts	Children’s Neurodevelopmental Center of Hasbro Children’s Hospital in Providence
Design
URL	https://dx.doi.org/https://doi.org/10.1007/s10803-024-06512-1
Pubmed	39136901
Subject count	32 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	46
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	2
frameshift insertion	2
nonframeshift deletion	1
nonsynonymous SNV	27
splicing	2
stopgain	12

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.