Prompt Description

Graphical abstract of a study that aims to improve the diagnosis and risk stratification in familial prostate cancer through the integration of genomic, epigenomic, and clinical data. We have 2 affected individuals from each family, while control samples are from a database (blood is extracted). Whole-genome sequencing is performed using Oxford Nanopore technology: two layers of information are simultaneously obtained from the same DNA molecule: (1) genetic variation (SNVs, indels, and structural variants) and (2) DNA methylation (CpG sites and regulatory regions). A separate genomic and epigenomic characterization of the cancer is performed. Subsequently, multi-omic integration (mQTLs) is performed: identification of functional relationships between genetic variants and changes in DNA methylation, as well as their association with relevant biological pathways of prostate cancer. Finally, the integration of molecular signatures...