Work

CATT - ClinGen AI data Transformation Tool

Year: 2026

Type: software

Abstract: This tool transforms large scale data from ClinGen, ClinVar and GenCC databases into formats ready for use in machine learning (ML) and large language model (LLM) analysis to enable analysis using classified genes and variants. The tool is command line-based but familiarity with Python is helpful.

DOI: 10.5281/zenodo.18896080

Authors: Du, Xinsong, Anna, Nagy, Michael, Oates, Aronson, Samuel, Lebo, Matthew, Li, Zhou

Institutions: Brigham and Women's Hospital, Harvard University, Mass General Brigham

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

Open Access status: green

Funders: National Institutes of Health, National Institute on Aging, National Human Genome Research Institute

Awards: Broad-Geisinger Clinical Genome Resource, Leveraging Longitudinal Data and Informatics Technology to Understand the Role of Bilingualism in Cognitive Resilience, Aging and Dementia

OpenAlex ID: W7134044471

Cites:

Cited by:

Related to: 10