@article {156536, title = {Mapping genetic diversity with the GenomeIndia project.}, journal = {Nat Genet}, volume = {57}, year = {2025}, month = {2025 Apr}, pages = {767-773}, chapter = {767}, abstract = {

The rich ethnolinguistic and sociocultural differences that exist in India offers a unique opportunity to study human diversity. With the whole genomes of 10,000 healthy and unrelated Indians from 83 populations, the GenomeIndia project captures the genetic diversity of one of the highly underrepresented populations in the global genomics landscape.

India, the most populous nation in the world with 1.44 billion people from over 4,600 distinct endogamous groups, represents an invaluable source of ethnolinguistic, sociocultural and genetic diversity. Deciphering the genetic makeup of human populations helps in understanding their ancestry, evolutionary history, admixture patterns, disease susceptibility and drug response. To this end, world over, genomics consortia have been established. Nevertheless, the global genomic landscape is predominantly Euro-centric1; although some projects have documented worldwide genetic diversity by discovering DNA sequence variation in several human populations, for example the 1000 Genomes project2, followed by others across the world, recent inclusions being at biobank scale3,4,5,6,7. Unfortunately, India has been severely underrepresented in these global studies. To address this lacuna, a few studies have been initiated to understand the human genetic diversity of Asia (GenomeAsia)8\ and India (IndiGen and LASI-DAD)9,10.

India experienced several waves of migration11,12\ with evidence of population expansion during the Paleolithic and Neolithic periods. The demographic history of India is also unique, with exposure to different environments and widespread admixture, followed by formation of numerous endogamous groups13. Many of the contemporary Indian populations have originated from a few founding groups and have maintained distinct identities through centuries of endogamy. These endogamous groups13,14, apart from sharing genetic similarities, possess unique variations, including distinct disease-causing mutations with amplified frequencies within specific groups.

}, issn = {1546-1718}, doi = {10.1038/s41588-025-02153-x}, url = {https://www.nature.com/articles/s41588-025-02153-x}, author = {Bhattacharyya, Chandrika and Subramanian, Krithika and Uppili, Bharathram and Biswas, Nidhan K and Ramdas, Shweta and Tallapaka, Karthik Bharadwaj and Arvind, Prathima and Rupanagudi, Khader Valli and Maitra, Arindam and Nagabandi, Tulasi and De, Tiyasha and Singh, Kuldeep and Sharma, Praveen and Sharma, Nanaocha and Raghav, Sunil K and Prasad, Punit and Soniya, E V and Jaleel, Abdul and Nelson Sathi, Shijulal and Joshi, Madhvi and Joshi, Chaitanya and Lahiri, Mayurika and Dixit, Santosh and Shashidhara, L S and Senthil Kumar, Nachimuthu and Lalhruaitluanga, H and Nundanga, Lal and Shivakumar, Venkataram and Venkatasubramanian, Ganesan and Rao, Naren P and Ganie, Mohd Ashraf and Wani, Imtiyaz Ahmad and Jha, Ganganath and Dalal, Ashwin and Bashyam, Murali Dharan and Varadwaj, Pritish Kumar and Bs, Sanjeev and Simmhan, Yogesh and Jain, Chirag and Sundar, Durai and Gupta, Ishaan and Yadav, Pankaj and Sinha, Himanshu and Narayanan, Manikandan and Raman, Karthik and Padinjat, Raghu and Sabarinathan, Radhakrishnan and Narahari, Yadati and Ravindranath, Vijayalakshmi and Kumarasamy, Thangaraj and Sowpati, Divya Tej and Faruq, Mohammed and Basu, Analabha and Kahali, Bratati} } @article {89429, title = {A comprehensive profile of genomic variations in the SARS-CoV-2 isolates from the state of Telangana, India.}, journal = {J Gen Virol}, year = {2021}, month = {2021 Feb 15}, abstract = {

The novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) causing COVID-19 has rapidly turned into a pandemic, infecting millions and causing 1 157 509 (as of 27 October 2020) deaths across the globe. In addition to studying the mode of transmission and evasion of host immune system, analysing the viral mutational landscape constitutes an area under active research. The latter is expected to impart knowledge on the emergence of different clades, subclades, viral protein functions and protein-protein and protein-RNA interactions during replication/transcription cycle of virus and response to host immune checkpoints. In this study, we have attempted to bring forth the viral genomic variants defining the major clade(s) as identified from samples collected from the state of Telangana, India. We further report a comprehensive draft of all genomic variations (including unique mutations) present in SARS-CoV-2 strain in the state of Telangana. Our results reveal the presence of two mutually exclusive subgroups defined by specific variants within the dominant clade present in the population. This work attempts to bridge the critical gap regarding the genomic landscape and associate mutations in SARS-CoV-2 from a highly infected southern region of India, which was lacking to date.

}, issn = {1465-2099}, doi = {10.1099/jgv.0.001562}, author = {Gupta, Asmita and Sabarinathan, Radhakrishnan and Bala, Pratyusha and Donipadi, Vinay and Vashisht, Divya and Katika, Madhumohan Rao and Kandakatla, Manohar and Mitra, Debashis and Dalal, Ashwin and Bashyam, Murali Dharan} }