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Toward clinical long-read genome sequencing for rare diseases

Jesper Eisfeldt, Marlene Ek, Magnus Nordenskjöld, Anna Lindstrand

2025Nature Genetics29 citationsDOI

Topics & Concepts

BiologyComputational biologyGeneticsGenomeDNA sequencingWhole genome sequencingEvolutionary biologyGeneGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics
Toward clinical long-read genome sequencing for rare diseases | Litcius