María Del Carmen Gómez-Del Castillo Solano

Resolving structural variants in hemophilia: insights from long-read sequencing and molecular and clinical implications.

Structural variants (SVs) in F8 and F9 are major causes of severe hemophilia, yet their mechanistic basis and clinical impact remain incompletely understood. We aimed to implement an integrated workflow to define hemophilia-associated SVs at nucleotide resolution and to explore genomic signatures and clinical correlate...