Context: India is considered a treasure for geneticists and evolutionary biologists due to its vast human diversity, consisting of more than 4500 anthropologically well-defined populations (castes, tribes and religious groups). Each population differs in terms of endogamy, language, culture, physical features, geographic and climatic position and genetic architecture. These factors contributed to India-specific genetic variations which may be responsible for various common diseases in India and its migratory populations. As a result, interpretations of the origins and affinities of Indian populations as well as health and disease conditions require complex and sophisticated genetic analysis. Evidence of ancient human dispersals and settlements is preserved in the genome of Indian inhabitants and this has been extensively analysed in conventional and genomic analyses.
Objective and methods: Using genomic analyses of STRs and Alu on a set of populations, this study estimates the level and extent of genetic variation and its implications.
Results: The results show that Indian populations have a higher level of unique genetic diversity which is structured by many social processes and geographical attributes of the country.
Conclusion: This overview highlights the need to study the anthropological structure and evolutionary history of Indian populations while designing genomic and epigenomic investigations.
Keywords: Alu; India; SNPs; STRs; castes; genomic variation; mtDNA; tribes.