Final answer:
A reference population is a group of modern individuals with known ancestry who have provided their DNA for genetic comparison, used by DNA ancestry services to estimate an individual's genetic ancestry based on SNPs.
Step-by-step explanation:
A reference population in the context of DNA ancestry services refers to a group of modern individuals who have contributed their DNA to databases and have documented their lineage or ancestry. These groups are used as a basis for comparison when estimating an individual's genetic ancestry. These reference populations have been studied to understand the prevalence of specific genetic markers, including variations known as single nucleotide polymorphisms (SNPs), which are variations at a single position in a DNA sequence among individuals. The ancestry services compare an individual's SNPs to these reference populations to determine genetic similarities and estimate ancestry composition.
SNPs are essential in genetic mapping and association studies, serving as markers to trace heredity, identify genetic predispositions to diseases, and explore human migration patterns. Professionals in the field of genetic anthropology combine DNA testing with other forms of evidence to understand human histories and disease patterns. Moreover, reference populations are crucial in genome-wide association studies (GWAS), as they help identify genetic differences associated with specific diseases by comparing SNP frequencies between affected and unaffected groups.