title: HGV&TB: a comprehensive online resource on human genes and genetic variants associated with tuberculosis.
abstract: Tuberculosis (TB) is an infectious disease caused by fastidious pathogen Mycobacterium tuberculosis. TB has emerged as one of the major causes of mortality in the developing world. Role of host genetic factors that modulate disease susceptibility have not been studied widely. Recent studies have reported few genetic loci that provide impetus to this area of research. The availability of tools has enabled genome-wide scans for disease susceptibility loci associated with infectious diseases. Till now, information on human genetic variations and their associated genes that modulate TB susceptibility have not been systematically compiled. In this work, we have created a resource: HGV&TB, which hosts genetic variations reported to be associated with TB susceptibility in humans. It currently houses information on 307 variations in 98 genes. In total, 101 of these variations are exonic, whereas 78 fall in intronic regions. We also analysed the pathogenicity of the genetic variations, their phenotypic consequences and ethnic origin. Using various computational analyses, 30 variations of the 101 exonic variations were predicted to be pathogenic. The resource is freely available at http://genome.igib.res.in/hgvtb/index.html. Using integrative analysis, we have shown that the disease associated variants are selectively enriched in the immune signalling pathways which are crucial in the pathophysiology of TB. Database URL: http://genome.igib.res.in/hgvtb/index.html
authors.affiliation: Department of Biotechnology, Delhi Technological University, Bawana Road, Delhi 110042, India, GN Ramachandran Knowledge Center for Genome Informatics, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Mathura Road, Delhi 110025, India, Acharya Narendra Dev College, University of Delhi, Govindpuri, Kalkaji, New Delhi 110019, India, Council of Scientific and Industrial Research (CSIR), Anusandhan Bhawan, 2 Rafi Marg, New Delhi 110001, India and Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhawan, New Delhi 110001, India.
authors.forename: Ruchika
authors.initials: R
authors.lastname: Sahajpal
authors.affiliation: Department of Biotechnology, Delhi Technological University, Bawana Road, Delhi 110042, India, GN Ramachandran Knowledge Center for Genome Informatics, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Mathura Road, Delhi 110025, India, Acharya Narendra Dev College, University of Delhi, Govindpuri, Kalkaji, New Delhi 110019, India, Council of Scientific and Industrial Research (CSIR), Anusandhan Bhawan, 2 Rafi Marg, New Delhi 110001, India and Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhawan, New Delhi 110001, India.
authors.forename: Gaurav
authors.initials: G
authors.lastname: Kandoi
authors.affiliation: Department of Biotechnology, Delhi Technological University, Bawana Road, Delhi 110042, India, GN Ramachandran Knowledge Center for Genome Informatics, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Mathura Road, Delhi 110025, India, Acharya Narendra Dev College, University of Delhi, Govindpuri, Kalkaji, New Delhi 110019, India, Council of Scientific and Industrial Research (CSIR), Anusandhan Bhawan, 2 Rafi Marg, New Delhi 110001, India and Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhawan, New Delhi 110001, India Department of Biotechnology, Delhi Technological University, Bawana Road, Delhi 110042, India, GN Ramachandran Knowledge Center for Genome Informatics, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Mathura Road, Delhi 110025, India, Acharya Narendra Dev College, University of Delhi, Govindpuri, Kalkaji, New Delhi 110019, India, Council of Scientific and Industrial Research (CSIR), Anusandhan Bhawan, 2 Rafi Marg, New Delhi 110001, India and Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhawan, New Delhi 110001, India.
authors.forename: Heena
authors.initials: H
authors.lastname: Dhiman
authors.affiliation: Department of Biotechnology, Delhi Technological University, Bawana Road, Delhi 110042, India, GN Ramachandran Knowledge Center for Genome Informatics, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Mathura Road, Delhi 110025, India, Acharya Narendra Dev College, University of Delhi, Govindpuri, Kalkaji, New Delhi 110019, India, Council of Scientific and Industrial Research (CSIR), Anusandhan Bhawan, 2 Rafi Marg, New Delhi 110001, India and Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhawan, New Delhi 110001, India.
authors.forename: Sweety
authors.initials: S
authors.lastname: Raj
authors.affiliation: Department of Biotechnology, Delhi Technological University, Bawana Road, Delhi 110042, India, GN Ramachandran Knowledge Center for Genome Informatics, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Mathura Road, Delhi 110025, India, Acharya Narendra Dev College, University of Delhi, Govindpuri, Kalkaji, New Delhi 110019, India, Council of Scientific and Industrial Research (CSIR), Anusandhan Bhawan, 2 Rafi Marg, New Delhi 110001, India and Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhawan, New Delhi 110001, India Department of Biotechnology, Delhi Technological University, Bawana Road, Delhi 110042, India, GN Ramachandran Knowledge Center for Genome Informatics, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Mathura Road, Delhi 110025, India, Acharya Narendra Dev College, University of Delhi, Govindpuri, Kalkaji, New Delhi 110019, India, Council of Scientific and Industrial Research (CSIR), Anusandhan Bhawan, 2 Rafi Marg, New Delhi 110001, India and Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhawan, New Delhi 110001, India.
authors.forename: Vinod
authors.initials: V
authors.lastname: Scaria
authors.affiliation: Department of Biotechnology, Delhi Technological University, Bawana Road, Delhi 110042, India, GN Ramachandran Knowledge Center for Genome Informatics, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Mathura Road, Delhi 110025, India, Acharya Narendra Dev College, University of Delhi, Govindpuri, Kalkaji, New Delhi 110019, India, Council of Scientific and Industrial Research (CSIR), Anusandhan Bhawan, 2 Rafi Marg, New Delhi 110001, India and Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhawan, New Delhi 110001, India Department of Biotechnology, Delhi Technological University, Bawana Road, Delhi 110042, India, GN Ramachandran Knowledge Center for Genome Informatics, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Mathura Road, Delhi 110025, India, Acharya Narendra Dev College, University of Delhi, Govindpuri, Kalkaji, New Delhi 110019, India, Council of Scientific and Industrial Research (CSIR), Anusandhan Bhawan, 2 Rafi Marg, New Delhi 110001, India and Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhawan, New Delhi 110001, India Deeksha.bhartiya@gmail.com.
authors.forename: Deeksha
authors.initials: D
authors.lastname: Bhartiya
authors.affiliation: Department of Biotechnology, Delhi Technological University, Bawana Road, Delhi 110042, India, GN Ramachandran Knowledge Center for Genome Informatics, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Mathura Road, Delhi 110025, India, Acharya Narendra Dev College, University of Delhi, Govindpuri, Kalkaji, New Delhi 110019, India, Council of Scientific and Industrial Research (CSIR), Anusandhan Bhawan, 2 Rafi Marg, New Delhi 110001, India and Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhawan, New Delhi 110001, India yashahasija@gmail.com.
authors.forename: Yasha
authors.initials: Y
authors.lastname: Hasija
mesh_terms: D002874:Chromosome Mapping; D030541:Databases, Genetic; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005828:Genetics, Population; D015894:Genome, Human / Q000235:genetics; D006801:Humans; D020407:Internet; D010641:Phenotype; D019655:Quantitative Trait, Heritable; D012984:Software; D014376:Tuberculosis / Q000235:genetics*