Complex structural variation in homologous recombination deficient tumors

This study characterizes the large-scale structural alterations found in cancers harboring known genetic alteration in BRCA1/2, using both short-read and 10X linked-read sequencing. These data provide a deep characterization of the patterns with both short-read and long-range information provided by 10X linked-read sequencing. These patterns open a window to understanding the underlying DNA damage repair mechanisms that generate the structural alterations observed. While this study in particular focuses on HR-deficiency, it has implications for understanding other mutational processes in cancer that leave genomic footprints.