Article

A comprehensive workflow for target adaptive sampling long-read sequencing applied to hereditary cancer patient genomes

2023-06-01

Abstract excerpt

Innovations in sequencing technology have led to the discovery of novel mutations that cause inherited diseases. However, many patients with suspected genetic diseases remain undiagnosed. Long-read sequencing technologies are expected to significantly improve the diagnostic rate by overcoming the limitations of short-read sequencing. In addition, Oxford Nanopore Technologies (ONT) offers a computationally-driven t...

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Literature Corpus work: 6595bddb-e167-55c7-8463-fda28949e6fd
DOI: 10.1101/2023.05.30.23289318

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