Pediatric Autism/Epilepsy Genetic Variant Data

**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.

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**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

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**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.

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**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.

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**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?

搜集汇总

背景与挑战

背景概述

该数据集包含2023年18岁以下儿科患者的自闭症/癫痫基因检测数据，涵盖变异分类、遗传模式等变异信息，以及基因与表型的关联数据。可用于分析特定基因与疾病变异、临床表现之间的相关性。