Journal of Clinical & Medical Genomics

Detection of Genomic Structural Variations Associated with Drug Sensitivity

Abstract

Katri Sarvi

In the era of precision medicine, unravelling the intricate relationship between genomic structural variations and drug sensitivity has emerged as a critical frontier in personalized therapeutics. Structural Variations (SVs), including insertions, deletions, inversions, and translocations, play a pivotal role in shaping the genetic landscape of individuals and contribute significantly to inter-individual variability in drug response. Detecting and characterizing these SVs offer invaluable insights into the mechanisms underlying drug sensitivity, paving the way for tailored treatment strategies and improved patient outcomes. One of the primary challenges in deciphering the impact of genomic SVs on drug sensitivity lies in accurately identifying and characterizing these variations within the vast expanse of the human genome. Traditional sequencing techniques often overlook SVs or provide incomplete information due to limitations in read length, resolution, and coverage. However, recent advancements in high-throughput sequencing technologies, such as Next Generation Sequencing (NGS) and long-read sequencing, have revolutionized the detection and characterization of SVs with unprecedented accuracy and depth.