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INDEX-db: The Indian Exome Reference Database (Phase I).

Abstract

Deep sequencing-based genetic mapping has greatly enhanced the ability to catalog variants with plausible disease association. Confirming how these identified variants contribute to specific disease conditions, across human populations, poses the next challenge. Differential selection pressure may impact the frequency of genetic variations, and thus detection of association with disease conditions, across populations. To understand genotype to phenotype correlations, it thus becomes important to first understand the spectrum of genetic variation within a population by creating a reference map. In this study, we report the development of phase I of a new database of genetic variations called INDian EXome database (INDEX-db), from the Indian population, with an aim to establish a centralized database of integrated information. This could be useful for researchers involved in studying disease mechanisms at clinical, genetic, and cellular levels.

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  • Authors+Show Affiliations

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    1 Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS), National Centre for Biological Sciences, Tata Institute of Fundamental Research (NCBS-TIFR), Bengaluru, India. 2 Institute of Bioinformatics and Applied Biotechnology (IBAB), Bengaluru, India.

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    3 Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS), Centre for Brain Development and Repair (CBDR), Institute for Stem Cell Biology and Regenerative Medicine (InStem), Bengaluru, India.

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    1 Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS), National Centre for Biological Sciences, Tata Institute of Fundamental Research (NCBS-TIFR), Bengaluru, India.

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    4 Department of Psychiatry, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.

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    4 Department of Psychiatry, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.

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    3 Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS), Centre for Brain Development and Repair (CBDR), Institute for Stem Cell Biology and Regenerative Medicine (InStem), Bengaluru, India.

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    Source

    Pub Type(s)

    Journal Article

    Language

    eng

    PubMed ID

    30615482

    Citation

    Ahmed P, Husayn, et al. "INDEX-db: the Indian Exome Reference Database (Phase I)." Journal of Computational Biology : a Journal of Computational Molecular Cell Biology, vol. 26, no. 3, 2019, pp. 225-234.
    Ahmed P H, V V, More RP, et al. INDEX-db: The Indian Exome Reference Database (Phase I). J Comput Biol. 2019;26(3):225-234.
    Ahmed P, H., V, V., More, R. P., Viswanath, B., Jain, S., Rao, M. S., & Mukherjee, O. (2019). INDEX-db: The Indian Exome Reference Database (Phase I). Journal of Computational Biology : a Journal of Computational Molecular Cell Biology, 26(3), pp. 225-234. doi:10.1089/cmb.2018.0199.
    Ahmed P H, et al. INDEX-db: the Indian Exome Reference Database (Phase I). J Comput Biol. 2019;26(3):225-234. PubMed PMID: 30615482.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - INDEX-db: The Indian Exome Reference Database (Phase I). AU - Ahmed P,Husayn, AU - V,Vidhya, AU - More,Ravi Prabhakar, AU - Viswanath,Biju, AU - Jain,Sanjeev, AU - Rao,Mahendra S, AU - Mukherjee,Odity, AU - ,, Y1 - 2019/01/07/ PY - 2019/1/8/pubmed PY - 2019/1/8/medline PY - 2019/1/8/entrez KW - Indian population KW - genetic variations catalogue KW - population-specific database KW - whole exome sequencing SP - 225 EP - 234 JF - Journal of computational biology : a journal of computational molecular cell biology JO - J. Comput. Biol. VL - 26 IS - 3 N2 - Deep sequencing-based genetic mapping has greatly enhanced the ability to catalog variants with plausible disease association. Confirming how these identified variants contribute to specific disease conditions, across human populations, poses the next challenge. Differential selection pressure may impact the frequency of genetic variations, and thus detection of association with disease conditions, across populations. To understand genotype to phenotype correlations, it thus becomes important to first understand the spectrum of genetic variation within a population by creating a reference map. In this study, we report the development of phase I of a new database of genetic variations called INDian EXome database (INDEX-db), from the Indian population, with an aim to establish a centralized database of integrated information. This could be useful for researchers involved in studying disease mechanisms at clinical, genetic, and cellular levels. SN - 1557-8666 UR - https://www.unboundmedicine.com/medline/citation/30615482/INDEX-db:_The_Indian_Exome_Reference_Database_(Phase_I) L2 - https://www.liebertpub.com/doi/full/10.1089/cmb.2018.0199?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -