HiFi long-read genomes for difficult-to-detect, clinically relevant variants.
Höps W, Weiss MM, Derks R, Galbany JC, Ouden AD, van den Heuvel S, Timmermans R, Smits J, Mokveld T, Dolzhenko E, Chen X, van den Wijngaard A, Eberle MA, Yntema HG, Hoischen A, Gilissen C, Vissers LELM.
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Am J Hum Genet. 2025 Jan 4:S0002-9297(24)00455-5. doi: 10.1016/j.ajhg.2024.12.013. Online ahead of print.
Am J Hum Genet. 2025.
PMID: 39809270