Indian Genome Variation Consortium

Samir K. Brahmachari, Partha P. Majumder, Mitali Mukerji, Saman Habib, Debasis Dash, Kunal Ray, Samira Bahl, Lalji Singh, Abhay Sharma, Susanta Roychoudhury, G. R. Chandak, K. Thangaraj, D. Parmar, Shantanu Sengupta, Dwaipayan Bharadwaj, Srikanta K. Rath, Jagmohan Singh, Ganga Nath Jha, Komal Virdi, V. R. Rao, Swapnil Sinha, Ashok Singh, Amit K. Mitra, Shrawan K. Mishra, Qadar Pasha, Sridhar Sivasubbu, Rajesh Pandey, Aradhita Baral, Prashant K. Singh, Amitabh Sharma, Jitender Kumar, Tsering Stobdan, Yasha Bhasin, Chitra Chauhan, Ashiq Hussain, Elyanambi Sundaramoorthy, S. P. Singh, Arun Bandyopadhyay, Krishanu Dasgupta, A. K. Reddy, Charles J Spurgeon, M. Mohd Idris, Vinay Khanna, Alok Dhawan, Mohini Anand, R. Shankar, R. S. Bharti, Madhu Singh, Arvind P. Singh, Anwar J. Khan, Parag P. Shah, A. B. Pant, Rupinder Kaur, Kamlesh K. Bisht, Ashok Kumar, Victor Rajamanickam, Eugene Wilson, Antony Thangadurai, Pankaj K. Jha, Mahua Maulik, Neelam Makhija, Abdur Rahim, Sangeeta Sharma, Rupali Chopra, Pooja Rana, M. Chidambaram, Arindam Maitra, Ruchi Chawla, Suruchika Soni, Preeti Khurana, Mohd. Nadeem Khan, Sushanta Das Sutar, Amit Tuteja, K. Narayansamy, Rachna Shukla, Swami Prakash, Swapna Mahurkar, K Radha Mani, J. Hemavathi, Seema Bhaskar, Pankaj Khanna, G. S. Ramalakshmi, Shalini Mani Tripathi, Nikita Thakur, Balaram Ghosh, Ritushree Kukreti, Taruna Madan, Ranjana Verma, G. Sudheer, Anubha Mahajan, Sreenivas Chavali, Rubina Tabassum, Sandeep Grover, Meenal Gupta, Jyotsna Batra, Amrendra Kumar, Abdoulazim Nejatizadeh, Mudit Vaid, Swapan K. Das, Shilpy Sharma, Mamta Sharma, Rajshekhar Chatterjee, Jinny A. Paul, Pragya Srivastava, Charu Rajput, Uma Mittal, Mridula Singh, Manoj Hariharan, Sumantra Das, Keya Chaudhuri, Mainak Sengupta, Moulinath Acharya, Ashima Bhattacharyya, Atreyee Saha, Arindam Biswas, Moumita Chaki, Arnab Gupta, Saibal Mukherjee, Suddhasil Mookherjee, Ishita Chattopadhyay, Taraswi Banerjee, Meenakshi Chakravorty, Chaitali Misra, Gourish Monadal, Shiladitya Sengupta, Dipanjana Dutta De, Swati Bajaj, Ishani Deb, Arunava Banerjee, Rajdeep Chowdhury, Debalina Banerjee, Deepak Kumar, Sumit Ranjan Das, Shrish Tiwari, Anshu Bharadwaj, Sangeeta Khanna, Ikhlak Ahmed, Sumera Parveen, Nivedita Singh, Dipayan Dasgupta, Siddharth Singh Bisht, Rashmi Rajput, Biswaroop Ghosh, Naveen Kumar, Amit Chaurasia, James K. Abraham, Amit Sinha, Vinod Scaria, Tav Pritesh Sethi, Amit K. Mandal, Arijit Mukhopadhyay,


Manuscripts where Indian Genome Variation Consortium is an author


  1. Indian Genome Variation Consortium. The Indian Genome Variation database (IGVdb): a project overview. Hum Genet. 2005 Oct;118(1):1-11. Epub 2005 Aug 25.Review. PubMed PMID: 16133172.



  1. Mahajan A, Chavali S, Ghosh S, Kabra M, Chowdhury MR; Indian Genome Variation Consortium, Bharadwaj D. Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. Online. Hum Mutat. 2007 May;28(5):526. PubMed PMID: 17397055.



  1. Gupta A, Maulik M, Nasipuri P, Chattopadhyay I, Das SK, Gangopadhyay PK; Indian Genome Variation Consortium, Ray K. Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers. Clin Chem. 2007 Sep;53(9):1601-8. Epub 2007 Jul 18. PubMed PMID: 17634212.


  1. Biswas A, Maulik M, Das SK; Indian Genome Variation Consortium, Ray K, Ray J. Parkin polymorphisms: risk for Parkinson's disease in Indian population. Clin Genet. 2007 Nov;72(5):484-6. PubMed PMID: 17935510.


  1. Saha A, Mukherjee S, Maulik M, Chandak GR; Indian Genome Variation Consortium, Ray K. Evaluation of genetic markers linked to hemophilia A locus: an Indian experience. Haematologica. 2007 Dec;92(12):1725-6. PubMed PMID: 18056007.


  1. Sinha S, Mishra SK, Sharma S, Patibandla PK, Mallick PK, Sharma SK, Mohanty S, Pati SS, Mishra SK, Ramteke BK, Bhatt R, Joshi H, Dash AP, Ahuja RC, Awasthi S;Indian Genome Variation Consortium, Venkatesh V, Habib S. Polymorphisms of TNF-enhancer and gene for FcgammaRIIa correlate with the severity of falciparum malaria in the ethnically diverse Indian population. Malar J. 2008 Jan 14;7:13. PubMed PMID: 18194515


  1. Bhattacharjee A, Banerjee D, Mookherjee S, Acharya M, Banerjee A, Ray A, Sen A, Indian Genome Variation Consortium, Ray K. Leu432Val Polymorphism in CYP1B1 as a Susceptible Factor towards Predisposition to Primary Open-angle Glaucoma, Mol Vis. 2008 May 8; 14: 841-850 PubMed PMID:18483560


  1. Indian Genome Variation Consortium. Genetic landscape of the people of India: a canvas for disease gene exploration. J Genet. 2008 Apr;87(1):3-20. PubMed PMID:18560169


  1. Prasher B, Negi S, Aggarwal S, Mandal AK, Sethi TP, Deshmukh SR, Purohit SG, Sengupta S, Khanna S, Mohammad F, Garg G, Brahmachari SK; Indian Genome Variation Consortium, Mukerji M. Whole genome expression and biochemical correlates of extreme constitutional types defined in Ayurveda. J Transl Med. 2008 Sep 9;6:48. PubMed PMID:18782426


  1. Hardy BJ, S├ęguin B, Singer PA, Mukerji M, Brahmachari SK, Daar AS.From diversity to delivery: the case of the Indian Genome Variation Initiative,Nat Rev Genet. 2008 Oct;9 Suppl 1:S9-14. PubMed PMID: 18802420.


  1. Sinha S, Qidwai T, Kanchan K, Anand P, Jha GN, Pati SS, Mohanty S, Mishra SK, Tyagi PK, Sharma SK; Indian Genome Variation Consortium, Venkatesh V, Habib S. Variations in host genes encoding adhesion molecules and susceptibility to falciparum malaria in India. Malar J. 2008 Dec 4;7:250. PubMed PMID:19055786


  1. Bahl S, Ahmed I; Indian Genome Variation Consortium, Mukerji M. Utilizinglinkage disequilibrium information from Indian Genome Variation Database for mapping mutations: SCA12 case study. J Genet. 2009 Apr;88(1):55-60.PuMed PMID:19417544.


  1. Sinha S, Arya V, Agarwal S; Indian Genome Variation Consortium, Habib S. Genetic differentiation of populations residing in areas of high malaria endemicity in India. J Genet. 2009 Apr;88(1):77-80. PubMed PMID: 19417547.


  1. HUGO Pan-Asian SNP Consortium, Abdulla MA, Ahmed I, Assawamakin A, Bhak J, Brahmachari SK, Calacal GC, Chaurasia A, Chen CH, Chen J, Chen YT, Chu J, Cutiongco-de la Paz EM, De Ungria MC, Delfin FC, Edo J, Fuchareon S, Ghang H, Gojobori T, Han J, Ho SF, Hoh BP, Huang W, Inoko H, Jha P, Jinam TA, Jin L, Jung J, Kangwanpong D, Kampuansai J, Kennedy GC, Khurana P, Kim HL, Kim K, Kim S, Kim WY, Kimm K, Kimura R, Koike T, Kulawonganunchai S, Kumar V, Lai PS, Lee JY, LeeS, Liu ET, Majumder PP, Mandapati KK, Marzuki S, Mitchell W, Mukerji M, Naritomi K, Ngamphiw C, Niikawa N, Nishida N, Oh B, Oh S, Ohashi J, Oka A, Ong R, Padilla CD, Palittapongarnpim P, Perdigon HB, Phipps ME, Png E, Sakaki Y, Salvador JM,Sandraling Y, Scaria V, Seielstad M, Sidek MR, Sinha A, Srikummool M, Sudoyo H, Sugano S, Suryadi H, Suzuki Y, Tabbada KA, Tan A, Tokunaga K, Tongsima S, Villamor LP, Wang E, Wang Y, Wang H, Wu JY, Xiao H, Xu S, Yang JO, Shugart YY, Yoo HS, Yuan W, Zhao G, Zilfalil BA; Indian Genome Variation Consortium. Mapping human genetic diversity in Asia. Science. 2009 Dec 11;326(5959):1541-5.PubMed PMID:20031640.


  1. Kumar J, Garg G, Kumar A, Sundaramoorthy E, Sanapala KR, Ghosh S, Karthikeyan G, Ramakrishnan L; Indian Genome Variation Consortium, Sengupta S. Single nucleotide polymorphisms in homocysteine metabolism pathway genes: association of CHDH A119C and MTHFR C677T with hyperhomocysteinemia. Circ Cardiovasc Genet. 2009 Dec;2(6):599-606. PubMed PMID:20031640.


  1. Senguta M, Chakraborty A; Indian Genome Variation Consortium, Ray K, Analysis of single nucleotide polymorphisms of PRNP gene in twenty four ethnic groups of India, J Genet. 2010 Aug;89(2):247-51., PubMed PMID:20861579.


  1. Narang A,Roy RD,Chaurasia A, Mukhopadhyay A, Mukerji M; Indian Genome Variation Consortium, Dash D. IGVBrowser--a genomic variation resource from diverse Indian populations. Database (Oxford). 2010 Sep 15,, PubMed PMID: 20843867.


  1. Chaki M, Sengupta M, Mondal M, Bhattacharya A, Mallick S, Bhadra R; Indian Genome Variation Consortium, Ray K.Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients. J Invest Dermatol. 2011 Jan;131(1): Database (Oxford). 2010 Sep 15,, PubMed PMID: 20861851.


  1. Aggarwal S, Negi S, Jha P, Singh PK, Stobdan T, Pasha MA, Ghosh S, Agrawal A;Indian Genome Variation Consortium, Prasher B, Mukerji M. EGLN1 involvement in high-altitude adaptation revealed through genetic analysis of extreme constitution types defined in Ayurveda. , Proc Natl Acad Sci U S A. 2010 Nov 2;107(44):18961-6., PubMed PMID: 20956315.


  1. Abhimanyu, Mangangcha IR, Jha P, Arora K, Mukerji M, Banavaliker JN; Indian Genome Variation ConsortiumBrahmachari V, Bose M. Differential serum cytokine levels are associated with cytokine gene polymorphisms in north Indians with active pulmonary tuberculosis.Infect Genet Evol. 2011 Jul;11(5):1015-22.Epub 2011 Apr 1. PubMed PMID: 21463712.


  1. Saha A, Nayak S, Mani KR, Chandak GR; Indian Genome Variation Consortium, Ray K, Mukhopadhyay A. A set of five microsatellite markers linked to F8 gene can detect haemophilia A carriers across India. Haemophilia. 2011 Sep;17(5):e928-35. , PubMed PMID: 21696518.


  1. Narang A, Jha P, Rawat V, Mukhopadhyay A, Dash D; Indian Genome Variation Consortium, Basu A, Mukerji M. Recent admixture in an Indian population of African ancestry. Am J Hum Genet. 2011 Jul 15;89(1):111-20.Epub 2011 Jul 7. Erratum in: Am J Hum Genet. 2011 Aug 12;89(2):344. Mukhopadhayay, Arijit [corrected to Mukhopadhyay, Arijit]. , PubMed PMID: 21737057.


  1. Gautam P, Jha P, Kumar D, Tyagi S, Varma B, Dash D, Mukhopadhyay A; Indian Genome Variation Consortium, Mukerji M. Spectrum of large copy number variations in 26 diverse Indian populations: potential involvement in phenotypic diversity. Hum Genet. 2012 Jan;131(1):131-43. , PubMed PMID: 21744140.


  1. Singh A, Sharma P, Kar HK, Sharma VK, Tembhre MK, Gupta S, Laddha NC, Dwivedi M, Begum R; Indian Genome Variation Consortium, Gokhale RS, Rani R. HLA alleles and amino-acid signatures of the peptide-binding pockets of HLA molecules in vitiligo. J Invest Dermatol. 2012 Jan;132(1):124-34 , PubMed PMID: 21833019.


  1. Gupta M, Kaur H, Jajodia A, Jain S, Satyamoorthy K, Mukerji M, Thirthalli J; Indian Genome Variation Consortium, Kukreti R. Diverse facets of COMT: from a plausible predictive marker to a potential drug target for schizophrenia. Curr Mol Med. 2011 Dec;11(9):732-43. Review. , PubMed PMID: 21999147.


  1. Yang X, Xu S; HUGO Pan-Asian SNP Consortium;Indian Genome Variation Consortium, Identification of close relatives in the HUGO Pan-Asian SNP database.PLoS One. 2011;6(12):e29502 , PubMed PMID: 22242128


  1. Jha P, Sinha S, Kanchan K, Qidwai T, Narang A, Singh PK, Pati SS, Mohanty S, Mishra SK, Sharma SK, Awasthi S, Venkatesh V, Jain S, Basu A, Xu S;Indian Genome Variation Consortium, Mukerji M, Habib S. Deletion of the APOBEC3B gene strongly impacts susceptibility to falciparum malaria. Infect Genet Evol. 2012 Jan;12(1):142-8 , PubMed PMID: 22108670.


  1. Abhimanyu, Bose M, Jha P;Indian Genome Variation Consortium, Footprints of genetic susceptibility to pulmonary tuberculosis: cytokine gene variants in north Indians. Indian J Med Res. 2012 May;135(5):763-70. , PubMed PMID: 22771610.


  1. Goswami R, Singh A, Gupta N; Indian Genome Variation Consortium, Rani R.Presence of strong association of the major histocompatibility complex (MHC) class I allele HLA-A*26:01 with idiopathic hypoparathyroidism. J Clin Endocrinol Metab. 2012 Sep;97(9):E1820-4. , PubMed PMID: 22723329.


  1. Petersen DC, Libiger O, Tindall EA, Hardie RA, Hannick LI, Glashoff RH,Mukerji M; Indian Genome Variation Consortium, Fernandez P, Haacke W, Schork NJ, Hayes VM. Complex patterns of genomic admixture within southern Africa. PLoS Genet. 2013;9(3):e1003309 , PubMed PMID: 23516368.


  1. Giri AK, Khan NM, Grover S, Kaur I, Basu A, Tandon N, Scaria V;Consortium IGV; INDICO, Kukreti R, Brahmachari SK, Bharadwaj D. Genetic epidemiology of pharmacogenetic variations in CYP2C9, CYP4F2 and VKORC1 genes associated with warfarin dosage in the Indian population.Pharmacogenomics. 2014 Jul;15(10):1337-54 , PubMed PMID: 25155935.


  1. Mitra AK, Singh A; Indian Genome Variation Consortium, Rath SK. LIG1 polymorphisms: the Indian scenario. J Genet. 2014 Aug;93(2):459-69. , PubMed PMID: 25189241.


  1. Narang A, Jha P, Kumar D, Kutum R, Mondal AK; Indian Genome Variation Consortium, Dash D, Mukerji M. Extensive copy number variations in admixed Indian population of African ancestry: potential involvement in adaptation. Genome Biol Evol. 2014 Nov 13;6(12):3171-81. , PubMed PMID: 25398783.


  1. Gautam P, Chaurasia A, Bhattacharya A, Grover R;Indian Genome Variation Consortium, Mukerji M, Natarajan VT. Population diversity and adaptive evolution in keratinization genes: impact of environment in shaping skin phenotypes. Mol Biol Evol. 2015 Mar;32(3):555-73 , PubMed PMID: 25534032.


  1. Aggarwal S, Gheware A, Agrawal A, Ghosh S, Prasher B, Mukerji M; Indian Genome Variation Consortium, Combined genetic effects of EGLN1 and VWF modulate thrombotic outcome in hypoxia revealed by Ayurgenomics approach. J Transl Med. 2015 Jun 6;13:184. , PubMed PMID: 26047609.


  1. Kanchan K, Pati SS, Mohanty S, Mishra SK, Sharma SK, Awasthi S; Indian Genome Variation Consortium, Venkatesh V, Habib S. Polymorphisms in host genes encoding NOSII, C-reactive protein, and adhesion molecules thrombospondin and E-selectin are risk factors for Plasmodium falciparum malaria in India. Eur J Clin Microbiol Infect Dis. 2015 Oct;34(10):2029-39. , PubMed PMID: 26194693.


  1. Talwar P, Kanojia N, Mahendru S, Baghel R, Grover S, Arora G, Grewal GK,Parween S, Srivastava A, Singh M, Vig S, Kushwaha S, Sharma S, Bala K; Indian Genome Variation Consortium, Kukreti S, Kukreti R. Genetic contribution of CYP1A1 variant on treatment outcome in epilepsy patients: a functional and interethnic perspective. Pharmacogenomics J. 2016 Mar 8. , PubMed PMID: 26951882.