HiFi long-read genomes for difficult-to-detect clinically relevant variants
Wolfram Höps,
Marjan M. Weiss,
Ronny Derks
et al.
Abstract: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 rare diseases. To test this hypothesis, we performed LRS (30x HiFi genomes) for 100 samples with 145 known clinical… Show more
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