HiFi sequencing accurately identifies clinically relevant variants in paralogous genes

The American Journal of Human Genetics 2026 Open access

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Authors: Bart P. G. H. van der Sanden, Christian Stephan Betz, Kate S. Herzog, Esther Schamschula, Katharina Wimmer, Inga Vater, Saranya Balachandran, Xiao Chen, Jordi Corominas Galbany, Raoul Timmermans, Ronny C. Derks, Malte Spielmann
+6 more Michael A. Eberle, Christian Gilissen, Lisenka E.L.M. Vissers, Johannes Zschocke, Hanno J. Bolz, Alexander Hoischen
DOI: 10.1016/j.ajhg.2026.04.014
Cited by: 0
References: 16

Fields of Study & Subjects

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Neurogenetic and Muscular Disorders Research

Publication details

Journal / source
The American Journal of Human Genetics
Publisher
Elsevier BV
Volume
113
Issue
6
Pages
1357–1363
Publication date
1 June 2026
Language
EN