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    Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance

    Khan, S. and Akter, S. and Goswami, B. and Ahashan, H. and Banu, T. and Barton, Carl and Osman, E. and Samir, S. and Arjuman, F. and Hasan, S. and Hossain, M. (2021) Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance. BMC Research Notes 14 (105), ISSN 1756-0500.

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    Abstract

    Objective: The major objective of the study was to sequence the whole genome of four Bangladeshi individuals and identify variants that are known to be associated with functional changes or disease states. We also carried out an ontology analysis to identify the functions and pathways most likely to be afected by these variants. Results: We identifed around 900,000 common variants and close to 5 million unique ones in all four of the indi‑ viduals. This included over 11,500 variants that caused nonsynonymous changes in proteins. Heart function associ‑ ated pathways were heavily implicated by the ontology analysis; corroborating previous studies that claimed the Bangladeshi population as highly susceptible to heart disorders. Two variants were found that have been previously identifed as pathogenic factors in familial hypercholesteremia and structural disorders of the heart. Other pathogenic variants we found were associated with pseudoxanthoma elasticum, cancer progression, polyagglutinable erythro‑ cyte syndrome, preeclampsia, and others

    Metadata

    Item Type: Article
    School: Birkbeck Faculties and Schools > Faculty of Science > School of Computing and Mathematical Sciences
    Research Centres and Institutes: Population, Environment and Resources Group (Closed)
    Depositing User: Carl Barton
    Date Deposited: 25 Oct 2023 12:25
    Last Modified: 25 Oct 2023 20:33
    URI: https://eprints.bbk.ac.uk/id/eprint/52286

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