Abstract
The human genome contains vast amounts of genetic information that plays a crucial role in health and disease. Uncovering the genetic risk factors for complex diseases is a major challenge in modern medicine. Advances in genomic technologies, including genome-wide association studies (GWAS), next-generation sequencing (NGS), and bioinformatics tools, have significantly improved our ability to identify genetic variants associated with disease. This article reviews the methods used to investigate the human genome for genetic risk factors, including the application of bioinformatics tools in GWAS, rare variant discovery, and the interpretation of functional consequences of genetic variants. We also discuss the challenges and future directions in uncovering genetic risk factors for common diseases.
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