Article

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes

2025-10-31

Abstract excerpt

Short-read sequencing (SRS) methods have improved the detection of small genetic variants but remain limited in highly homologous genomic regions, such as segmental duplications with gene-pseudogene pairs. These paralogous regions often require complex, locus-specific assays for accurate analysis. Long-read genome sequencing (lrGS) technologies, such as PacBio HiFi sequencing, can span these regions but still face...

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Literature Corpus work: f9d22cf0-51af-53e0-9b49-f402389f483b
DOI: 10.1101/2025.10.29.25339045

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