Genetic landscape of the people of India: a canvas for disease gene exploration

@article{Brahmachari2008GeneticLO,
  title={Genetic landscape of the people of India: a canvas for disease gene exploration},
  author={Samir K. Brahmachari and Partha P. Majumder and Mitali Mukerji and Saman Habib and Debasis Dash and Kunal Ray and Samira Bahl and Lalji Singh and Abhay Kumar Sharma and Susanta Roychoudhury and Giriraj Ratan Chandak and Kumarasamy Thangaraj and Devendra Parmar and Shantanu P Sengupta and Dwaipayan Bharadwaj and Srikanta Kumar Rath and Jagmohan Singh and Ganga Nath Jha and Komal Virdi and V. R. Rao and Swapnil Sinha and Ashutosh Kumar Singh and Amit Kumar Mitra and Shrawan Kumar Mishra and Qadar Pasha and Sridhar Sivasubbu and Rajesh Pandey and Aradhita Baral and Prashant Kumar Singh and Amitabh Sharma and Jitender Kumar and Tsering Stobdan and Yasha Bhasin and Chitra Rani Chauhan and Ashiq Hussain and Elyanambi Sundaramoorthy and Suchita Singh and Arun Kumar Bandyopadhyay and Krishanu Dasgupta and Avinash Reddy and Charles J. Spurgeon and Mohammed M. Idris and Vinay Kumar Khanna and Alok Dhawan and Mohini Anand and Ravi Shankar and Ram Suresh Bharti and Madhu Sudan Singh and Arvind P Singh and Anwar J. Khan and Parag P. Shah and Aditya Bhushan Pant and Rupinder Preet Kaur and Kamlesh Kumar Bisht and Ashok Kumar and Victor G. Rajamanickam and Eugene Wilson and Antony Thangadurai and Pankaj Kumar Jha and Mahua Maulik and Neelam Makhija and Abdur Rahim and Sangeeta Sharma and Rupali Chopra and Pooja Rana and Manickam Chidambaram and Arindam Maitra and Ruchi Chawla and Suruchika Soni and Preeti Khurana and Mohamed Nadeem Khan and Sushanta Kumar Das Sutar and Amita Tuteja and Kathiresan Narayansamy and Rachna Shukla and Soami Prakash and Swapna Mahurkar and K. Radha Mani and J. Hemavathi and Seema Bhaskar and Pankaj Khanna and Gudla Ramalakshmi and Shalini Tripathi and Nikita Thakur and Balaram Ghosh and Ritushree Kukreti and Taruna Madan and Ranjana Verma and G. Sudheer and Anubha Mahajan and Sreenivas Chavali and Rubina Tabassum and Sandeep Grover and Meenal Gupta and Jyotsna Batra and Amrendra Kumar and Abdoulazim Nejatizadeh and Mudit Vaid and Swapan K. Das and Shilpy Sharma and Mamta Sharma and Rajshekhar Chatterjee and Jinny Paul and Pragya Srivastava and Charu Rajput and Uma Mittal and M. Madhumangal Singh and Manoj Hariharan and S. K. Das and Keya Chaudhuri and Mainak Sengupta and Moulinath Acharya and Ashima Bhattacharyya and Atreyee Saha and Arindam Biswas and Moumita Chaki and Arnab Gupta and Saibal Mukherjee and Suddhasil Mookherjee and Ishita Chattopadhyay and Taraswi Banerjee and Meenakshi Chakravorty and Chaitali Misra and Gourish Monadal and Shiladitya Sengupta and Dipanjana Dutta De and Swati Bajaj and Ishani Deb and Arunava Banerjee and Rajdeep Chowdhury and Debalina Banerjee and Deepak Kumar and Sumit Ranjan Das and Shrish Tiwari and Anshu Bharadwaj and Ikhlak Ahmed and Sumera Parveen and Nivedita Singh and Dipayan Dasgupta and Siddharth Singh Bisht and Sangeeta Khanna and Rashmi Rajput and Balaram Ghosh and Naveen Kumar and Amit Kumar Chaurasia and James Kappukalayil Abraham and Amit Sinha and Vinod Scaria and Tavpritesh Sethi and Amit Kj Mandal and Arijit Mukhopadhyay},
  journal={Journal of Genetics},
  year={2008},
  volume={87},
  pages={3-20}
}
Analyses of frequency profiles of markers on disease or drug-response related genes in diverse populations are important for the dissection of common diseases. We report the results of analyses of data on 405 SNPs from 75 such genes and a 5.2 Mb chromosome, 22 genomic region in 1871 individuals from diverse 55 endogamous Indian populations. These include 32 large (> 10 million individuals) and 23 isolated populations, representing a large fraction of the people of India. We observe high levels… 
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Development of the IGVBrowser that provides allele and genotype frequency data generated in the IGVC project, which provides a basal level variation data in Indian population to study genetic diseases and pharmacology is reported here.
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It is shown that there is limited genetic marker portability from available genetic resources such as HapMap or the 1,000 Genomes Project to Indian populations, which also present an excess of private rare variants, and tagSNPs show a high level of portability between the two Indian population, in contrast to the common belief that North and South Indian populations are genetically very different.
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It is discussed how a collaborative research initiative such as GUaRDIAN can provide a nation-wide framework to cater to the rare disease community of India and how genome-based solutions can enable accelerated diagnosis and management of rare diseases.
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