GeneDx

Description This dataset will provide high quality pheno-genotype data used for cohort exploration for pediatric patients tested for the rare conditions of epilepsy and autism for the period of January 1, 2023 - December 31, 2023. Cohort Criteria Patient Age at Testing < 18 Had exome or genome testing at GeneDx Variant Classifications of Pathogenic, Likely Pathogenic, or VUS Test Result Date from 1/1/2023 - 12/31/2023 Data Schema VARIANT Table Gene: The name of the gene in which the variant is located. Cdot: The cDNA change associated with the variant.

cDNA, or complementary DNA, is a DNA sequence synthesized from an RNA template. This field describes how the variant alters the DNA sequence. Pdot: The protein change caused by the variant.

Since DNA provides the instructions for building proteins, a variant in the DNA can change the protein sequence. This field describes that change. Variant Classification: Pathogenic, Likely Pathogenic, or VUS (Variant of Uncertain Significance).

These classifications indicate the likelihood that a variant causes disease: Pathogenic: The variant is known to cause disease. Likely Pathogenic: The variant is highly likely to cause disease, but there is slightly less evidence than for a pathogenic variant. Variant of Uncertain Significance (VUS): The variant may or may not cause disease, but there is not enough evidence to be sure.

Inheritance Pattern: Describes how the genetic variant is inherited. Zygosity: describes the zygosity of the variant, which refers to the number of copies of the variant allele present. GENE_PHENOTYPE Table Gene: The name of the gene.

HPO Id: The Human Phenotype Ontology (HPO) identifier. , HP:0001942 for Seizures). HPO Name: The Human Phenotype Ontology (HPO) name.

, "Seizures"). Total Count: The number of times the specific gene is associated with the specific phenotype. Insights that can be made Gene-Variant Associations Which genes are most frequently associated with epilepsy and autism in this cohort?

Gene-Phenotype Associations Which genes are most frequently associated with specific phenotypes in pediatric epilepsy and autism?