Editorial: The clinical utility of long read sequencing to improve diagnostic yield and uncover biological mechanisms in rare disease :: Library Catalog

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Editorial: The clinical utility of long read sequencing to improve diagnostic yield and uncover biological mechanisms in rare disease

oleh: Lidia Larizza, Christopher M. Watson, Christopher M. Watson, Madelyn A. Gillentine, Palma Finelli, Palma Finelli

Format:	Article
Diterbitkan:	Frontiers Media S.A. 2024-10-01

Deskripsi

Subjek

long-read sequencing; genetic diseases; structural variants; chromothripsis; tandem repeat-related diseases; transcriptomics