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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.

Matt W Wright¹, Courtney L Thaxton², Tristan Nelson³

¹Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu.

Annual Review of Biomedical Data Science

|April 25, 2024

Summary

This summary is machine-generated.

The Clinical Genome Resource (ClinGen) developed a data infrastructure to standardize gene-disease validity curation. This improves access to reliable genetic data for precision medicine and clinical diagnostics.

Keywords:

biocuration clinical genetics data harmonization data standards precision medicine research informatics

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Area of Science:

Genetics
Bioinformatics
Medical Informatics

Background:

Clinical genetic testing requires validated biomedical data for accurate diagnoses and precision medicine.
Inconsistent data structures and evaluation methods hinder the assessment of gene-disease causality and clinical validity.
The Clinical Genome Resource (ClinGen) aims to bridge knowledge gaps in understanding gene-disease relationships.

Purpose of the Study:

To review ClinGen's development of a data curation infrastructure for gene-disease validity.
To highlight the standardization, harmonization, and dissemination of genetic validity data.
To showcase the applications supporting ClinGen's curation efforts.

Main Methods:

Development of frameworks for gene-disease validity curation.
Implementation of common data standards for genetic information.
Utilization of integrated applications: ClinGen GeneTracker, Gene Curation Interface, Data Exchange, GeneGraph, and website.

Main Results:

A robust infrastructure for standardizing and harmonizing gene-disease validity data has been established.
Improved accessibility and consistency in evaluating the strength of evidence for gene-disease relationships.
Facilitation of data dissemination for clinical decision-making.

Conclusions:

ClinGen's infrastructure enhances the reliability of genetic data for clinical applications.
Standardized curation processes are crucial for advancing precision medicine.
The developed tools support consistent and accessible evaluation of gene-disease validity.