Article

Closing the gap: Solving complex medically relevant genes at scale

2024-03-18

Abstract excerpt

Comprehending the mechanism behind human diseases with an established heritable component represents the forefront of personalized medicine. Nevertheless, numerous medically important genes are inaccurately represented in short-read sequencing data analysis due to their complexity and repetitiveness or the so-called "dark regions" of the human genome. The advent of PacBio as a long-read platform has provided new i...

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Literature Corpus work: 3bbd1782-b8f6-5690-b3c8-9b8551e98e55
DOI: 10.1101/2024.03.14.24304179

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