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HiFi Long-Read Genomes for Difficult-to-detect Clinically Relevant Variants

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

The American Journal of Human Genetics（2025）

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Key words
long-read sequencing,clinical utility,omics,genomics,rare disease,diagnostics,challenging variants,short-read sequencing
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