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

2023-06-01 genetic and genomic medicine Title + abstract only
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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 target enrichment technology, adaptive sampling, which enables intensive analysis of...

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