Mate-Pair Sequencing Enables Identification and Delineation of Balanced and Unbalanced Structural Variants in Prenatal Cytogenomic Diagnostics
Clin Chem. 2025 Jan 3;71(1):155-168. doi: 10.1093/clinchem/hvae146. ABSTRACT BACKGROUND: Mate-pair sequencing detects both balanced and unbalanced structural variants (SVs) and simultaneously informs in relation to …