ClinGen API platform for classification of human genetic variants

Cell Genomics 2026 Open access

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Authors: Neethu Shah, Tierra Farris, Arturo Alejandro Zuniga, Andrew R. Jackson, Jessie E Arce, Kevin P. Riehle, Christine G. Preston, Mark E. Mandell, Bryan Wulf, Gloria Cheung, Keyang Yu, Deborah I. Ritter
+14 more Dubravka Jevtic, Miroslav Milinkov, Novak Martinovic, Nevena Vucinic, Aleksandar Mihajlovic, Alan F. Rubin, Melissa S. Cline, Marina Distefano, Malachi Griffith, Obi L. Griffith, Matt W. Wright, Teri E. Klein, Sharon E. Plon, Aleksandar Milosavljevic
DOI: 10.1016/j.xgen.2026.101211
Cited by: 1
References: 8

Abstract

In this commentary, we describe how the Clinical Genome Resource's (ClinGen's) application programming interface-based microservices accelerate growth and dissemination of knowledge about human genetic variation. By exposing findable, accessible, interoperable, reusable, and AI-ready variant data, ClinGen lays a foundation for next-generation software applications, AI systems, and variant classification workflows.

Fields of Study & Subjects

Genomics and Rare Diseases Biomedical Text Mining and Ontologies Genetic Associations and Epidemiology

Publication details

Journal / source
Cell Genomics
Publisher
Elsevier BV
Volume
6
Issue
4
Pages
101211–101211
Publication date
1 April 2026
Language
EN