HiFi long-read genomes for difficult-to-detect, clinically relevant variants

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Authors: Wolfram Höps, Marjan M. Weiss, Ronny Derks, Jordi Corominas Galbany, Amber den Ouden, Simone van den Heuvel, Raoul Timmermans, Jos Smits, Tom Mokveld, Egor Dolzhenko, Xiao Chen, Arthur van den Wijngaard, Michael A. Eberle, Helger G. Yntema, Alexander Hoischen, Christian Gilissen, Lisenka E.L.M. Vissers

Journal title: The American Journal of Human Genetics

Journal publisher: Elsevier BV

Published year: 2025

DOI identifier: 10.1016/j.ajhg.2024.12.013

ISSN: 0002-9297