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HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
2025-10-31
genetic and genomic medicine
Title + abstract only
View on medRxiv
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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 challenges in variant calling due to alignment ambiguities. Here, we evaluated Pac...
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