Article
Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing.
European journal of human genetics : EJHG - 1 May 2023
Dixon Katherine, Shen Yaoqing, O'Neill Kieran, Mungall Karen L, Chan Simon, Bilobram Steve, Zhang Wei, Bezeau Marjorie, Sharma Alshanee, Fok Alexandra, Mungall Andrew J, Moore Richard, Bosdet Ian, Thibodeau My Linh, Sun Sophie, Yip Stephen, Schrader Kasmintan A, Jones Steven J M
Abstract excerpt
Germline structural variants (SVs) are challenging to resolve by conventional genetic testing assays. Long-read sequencing has improved the global characterization of SVs, but its sensitivity at cancer susceptibility loci has not been reported. Nanopore long-read genome sequencing was performed for nineteen individuals with pathogenic copy number alterations in BRCA1, BRCA2, CHEK2 and PALB2 identified by prior...
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