Article
HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.
American journal of human genetics - 4 Jun 2026
van der Sanden Bart, Betz Christian, Herzog Katharina, Schamschula Esther, Wimmer Katharina, Vater Inga, Balachandran Saranya, Chen Xiao, Corominas Galbany Jordi, Timmermans Raoul, Derks Ronny, Spielmann Malte, Eberle Michael A, Gilissen Christian, Vissers Lisenka E L M, Zschocke Johannes, Bolz Hanno J, Hoischen Alexander
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...
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