# GeneDx — Vendor Intelligence Profile
> Source: Vedex (https://vedex.ai) | Generated: 2026-10-05T09:37:59.986Z

## Overview

- **Description**: 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. This column stores the unique HPO identifier for a specific phenotype (e.g., HP:0001942 for Seizures).
HPO Name: The Human Phenotype Ontology (HPO) name. This column stores the descriptive name of the phenotype corresponding to the hpo_id (e.g., "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?
- **Domain**: genedx.com
- **Contact Email**: mahmoud.husseini@genedx.com
- **Company Website**: https://genedx.com

## Categories & Sectors

- **Categories**: Health and Life Sciences, Life Sciences Commercialization

## Marketplace Presence

- **Source Platforms**: snowflake_marketplace
- **Platform Count**: 1

## Intelligence Scores

- **Vendor Score**: 18.6
- **Market Presence**: 13.8
- **Integration**: 20
- **Business Maturity**: 3.2

## Links

- Vedex Profile: https://vedex.ai/vendor/genedx-bf6745
- Due Diligence: https://vedex.ai/due-diligence/genedx-bf6745