The comprehensive pedigree analysis to uncover biomarkers in complex diseases using liquid biopsy

Health care professionals have known for the substantial amount of time that complex and chronic diseases run in families. ‘Complex Diseases’ can be defined as a medical condition such as heart diseases, cancers, asthma, arthritis, and diabetes that do not have a single genetic cause–they are likely associated with the effects of multiple genes and conditions (polygenic). Although complex diseases often cluster in families but they do not have a clear-cut pattern of inheritance. This makes it difficult to determine a probability of complex diseases to be reoccurring in certain families. Therefore, the identification of personalized molecular biomarkers through the genetic analysis of every individual in the families that affected by complex diseases could provide an opportunity to improve quality of life through early detection and timely treatment. "Liquid biopsy" is a new and recently developed non-invasive technique uses circulating cell-free DNA (cfDNA) fragments that are released into the bloodstream. Our goal is to perform next-generation sequencing (NGS) of white blood cells (WBC) and cfDNA of the families with complex disease to make in-silico pedigree analysis that includes discovery of germline single–nucleotide polymorphism (SNPs), identification of structural variants (SV), chimeric genes and to detect microbiomes associated with the family to reveal novel biomarkers, which could be applied for the future personalized diagnostics and treatment using liquid biopsy technique.