Date of Submission


Date of Award


Institute Name (Publisher)

Indian Statistical Institute

Document Type

Doctoral Thesis

Degree Name

Doctor of Philosophy

Subject Name

Computer Science


Human Genetics Unit (HGU-Kolkata)


Majumder, Partha Pratim (HGU-Kolkata; ISI)

Abstract (Summary of the Work)

The work embodied in this thesis pertains to human population genetics. In particular, the overarching goals of this thesis are to contribute to the understanding of genomic diversity of human populations and to the development of statistical methods for making inferences in genome diversity studies. With these two goals in mind, we have carried out a detailed statistical analysis of genomic data on a large number of ethnic populations of India, generated in the laboratory of the Anthropology & Human Genetics Unit, Indian Statistical Institute, Kolkata. Additionally, wherever relevant, we have compared our data with those collated from the published literature. During the course of this empirical statistical study (the results of which are presented in Chapter 2), several methodological issues arose, which resulted in (a) development of probabilistic search algorithms for identifying motifs from DNA sequence data (Chapter 3), (b) comparisons of popular methods for estimating time to most recent common ancestor from DNA sequence data (Chapter 4), and, (c) development of a statistical method for estimating relative coalescent times from a sample of DNA sequences (Chapter 5).Chapter 1: Genomic Diversity in India, with Special Reference to Peopling and Population StructureBased on results of many earlier studies, it is now acknowledged that India occupies a centerstage in human evolution. India has served as a major corridor for the dispersal of modern humans that started from out-of-Africa about 100,000 years before present (ybp). The date of entry of modern humans into India, however, remains uncertain. Further, the migration routes of modern humans into India continue to remain somewhat enigmatic, and whether there were also returns to Africa from India/Asia remain unclear.Contemporary ethnic India is a land of enormous genetic, cultural and linguistic diversity. It has been shown that, with the exception of Africa, India harbors more genetic diversity than other comparable global regions. The contemporary people of India are culturally stratified as tribals and non-tribals. It is generally accepted that the tribal people are the original inhabitants of India. There are an estimated 461 tribal communities in India, who speak about 750 dialects which can be classified into one of the following three language families: Austro-Asiatic (AA), Dravidian (DR) and Tibeto- Burman (TB). There is considerable debate about the evolutionary histories of the Indian tribals. The proto-Australoid tribals, who speak dialects belonging to the Austric linguistic group, are believed to be the basic element in the Indian population. Many other anthropologists, historians and linguists have also supported the view that the Austro-Asiatic (a subfamily of the Austric language family) speaking tribals to be the original inhabitants of India. Some other scholars have, however, proposed that the Dravidians are the original inhabitants; the Austro-Asiatics are later immigrants. It is, however, noteworthy that the Indian Austro-Asiatic speakers are exclusively tribal, which may be indicative of their being the oldest inhabitants of India. Some believe that the Austro-Asiatic linguistic family evolved in southern China. If indeed this is true, then Indian Austro-Asiatic speakers must have entered India from southern China through the northeast.


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