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

Autor: Khan S; Bangladesh Council of Scientific and Industrial Research, Dr. Kudrat-I-Khuda Road, Dhaka, 1205, Bangladesh. k2salim@yahoo.com., Akter S; Bangladesh Council of Scientific and Industrial Research, Dr. Kudrat-I-Khuda Road, Dhaka, 1205, Bangladesh., Goswami B; Bangladesh Council of Scientific and Industrial Research, Dr. Kudrat-I-Khuda Road, Dhaka, 1205, Bangladesh., Habib A; Bangladesh Council of Scientific and Industrial Research, Dr. Kudrat-I-Khuda Road, Dhaka, 1205, Bangladesh., Banu TA; Bangladesh Council of Scientific and Industrial Research, Dr. Kudrat-I-Khuda Road, Dhaka, 1205, Bangladesh., Barton C; Academica Solutions, London, WA1 1RG, UK., Osman E; SciTech Consulting and Solutions, Dhaka, 1212, Bangladesh., Samir S; SciTech Consulting and Solutions, Dhaka, 1212, Bangladesh., Arjuman F; National Institute of Cancer Research Hospital, Dhaka, 1212, Bangladesh., Hasan S; Department of Biochemistry and Microbiology, North South University, Dhaka, 1229, Bangladesh., Hossain M; Department of Biochemistry and Microbiology, North South University, Dhaka, 1229, Bangladesh. muhammad.maqsud@northsouth.edu.; NSU Genome Research Institute (NGRI), North South University, Dhaka, 1229, Bangladesh. muhammad.maqsud@northsouth.edu.
Jazyk: angličtina
Zdroj: BMC research notes [BMC Res Notes] 2021 Mar 20; Vol. 14 (1), pp. 105. Date of Electronic Publication: 2021 Mar 20.
DOI: 10.1186/s13104-021-05514-x
Abstrakt: 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 affected by these variants.
Results: We identified around 900,000 common variants and close to 5 million unique ones in all four of the individuals. This included over 11,500 variants that caused nonsynonymous changes in proteins. Heart function associated 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 identified 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 erythrocyte syndrome, preeclampsia, and others.
Databáze: MEDLINE
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