Genome diagnostics: next-generation sequencing, new genome-wide association studies and clinical challenges

Whole genome sequence analysis to detect signatures of positive selection for high fecundity in sheep

“…Traditional animal breeding based only on the observed phenotypic data for low heritable characteristics such as fertility and health traits is often inaccurate, inefficient and time‐consuming (Fleming, Abdalla, Maltecca, & Baes, ; Rosati, Mousa, Vleck, & Young, ). Fortunately, advances in high‐throughput genome scanning methods, chiefly next‐generation sequencing technologies (NGS), have allowed us to identify causal genes and variants related to economically important traits and thus have proven to be a powerful genetic tool for interpreting the genetic underpinnings of complex traits in human and animal species (Sharma et al, ; Ziogas and Roukos, ).…”

Risk Factors and Early Detection of Breast Cancer: Facts, Questions, and Genome-Based Perspectives

“…The high complexity involved in the understanding of how these driver mutations and epigenome events dysregulate critical cell signalling pathways, biomolecular networks, and biologic systems homeostasis leading to tumorigenesis explains the current limitations in personalized risk assessment and prevention of the disease. Whether all these problems can be resolved by using next-generation sequencing for exome and wholegenome sequencing and rapid advances in systems and synthetic biology for predicting biomolecular networks will result in the discovery of novel robust biomarkers for early detection at a very early stage in asymptomatic women and new preventive drugs is still unknown [2][3][4][5][6][7][8][9] .…”