Work

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes

Year: 2026

Type: article

Source: The American Journal of Human Genetics

DOI: 10.1016/j.ajhg.2026.04.014

Authors: Bart van der Sanden, Christian Betz, Katharina Herzog, Esther Schamschula, Katharina Wimmer, Inga Vater, Saranya Balachandran, Xiao Chen, Jordi Corominas Galbany, Raoul Timmermans, Ronny Derks, Malte Spielmann, Michael A. Eberle, Christian Gilissen, Lisenka E.L.M. Vissers, Johannes Zschocke, Hanno J. Bolz, Alexander Hoischen

Institutions: Radboud University Medical Center, Innsbruck Medical University, Christian-Albrechts-Universität zu Kiel, University Hospital Schleswig-Holstein, University of Lübeck, Max Planck Institute for Molecular Genetics, Pacific Biosciences (United States)

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: European Commission, ZonMw, Nederlandse Organisatie voor Wetenschappelijk Onderzoek, Horizon 2020 Framework Programme, HORIZON EUROPE Framework Programme

Awards: G192479453, G434337789, G5003213828, G6015422456, Netherlands X-omics Initiative, Solving the unsolved Rare Diseases, EUROPEAN RARE DISEASES RESEARCH ALLIANCE, G8849477942

OpenAlex ID: W4415749865

FWCI: 2.103

Cites: 16

Cited by: 1

Related to: 10