Article

HiFi long-read genomes for difficult-to-detect clinically relevant variants

2024-09-19

Abstract excerpt

<h4>Summary</h4> Clinical short-read exome and genome sequencing approaches have positively impacted diagnostic testing for rare diseases. Yet, technical limitations associated with short reads challenge their use for detection of disease-associated variation in complex regions of the genome. Long-read sequencing (LRS) technologies may overcome these challenges, potentially qualifying as a first-tier test for all...

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Literature Corpus work: 6e3d9099-77a3-5086-98dd-96d4e3c9711d
DOI: 10.1101/2024.09.17.24313798

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