Human Genomics Technology Publisher



F Taheri FOROUGH ; N Goharifar NAIEME ; M Safari MEHRI ; A Goharifar AKRAM ; A Salmaninejad ARASH ; N Sarhangi NEGAR ; M Hasanzad MANDANA ; Mm Mohammadamoli Mahsa MOHAMMAD
Source: Published:2024

Abstract

Many common diseases are complex in etiology, with environmental and genetic causes. Improvements in both experimental and theoretical genetics, together with analytical breakthroughs and high-throughput genomics, have given us a new perspective on the mode of inheritance and genetic architecture of common diseases. The main objective of human genomics is to find causal functional variations and understand the processes by which they manifest their impact. Modern common disease mapping technology in humans uses methods like genome-wide association studies (GWAS) and next-generation sequencing (NGS). GWASs explore the genome for associations between millions of genetic variants and a medical condition or characteristic without having any prior assumptions. NGS has revolutionized genomics and is rapidly affecting clinical diagnostics and personalized medicine. This modern sequencing method provides the rapid and cost-effective analysis of large-scale genomic data, enabling a thorough examination of disease genetics. This chapter focuses primarily on the ways in which GWASs and NGS have revolutionized the field of human genomics. © 2025 Elsevier B.V., All rights reserved.