Gene polymorphisms play a crucial role in determining individual differences in health, susceptibility to diseases, and responses to therapies. Single nucleotide polymorphisms (SNPs) are the most prevalent form of genetic variation, affecting gene expression, protein function, and various biochemical pathways. Recent advancements in molecular biology, biochemistry, and bioinformatics have equipped researchers with powerful tools to detect, characterize, and interpret these genetic variations. This progress has led to new insights into disease mechanisms and the development of personalized medicine.
This Methods Collection aims to showcase innovative methodologies and experimental approaches for studying gene polymorphisms and their functional effects. Contributions may include techniques for detecting and genotyping SNPs and other genetic variants, bioinformatics pipelines for conducting association studies, and molecular assays for functional validation. We particularly encourage studies that examine the role of genetic polymorphisms in metabolic pathways, nutrition-gene interactions, drug metabolism, and disease biomarkers.