Articles with "diagnostics constitutional" as a keyword



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Long‐read sequencing for molecular diagnostics in constitutional genetic disorders

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Published in 2022 at "Human Mutation"

DOI: 10.1002/humu.24465

Abstract: Long‐read sequencing (LRS) has been around for more than a decade, but widespread adoption of the technology has been slow due to the perceived high error rates and high sequencing cost. This is changing due… read more here.

Keywords: diagnostics constitutional; sequencing molecular; lrs; read sequencing ... See more keywords