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

BMC Research Notes

Carl Barton¹  Barna Goswami²  Salim Khan²  Shahina Akter²  Ahashan Habib²  Tanjina Akhtar Banu²  Saam Hasan³  Maqsud Hossain⁴  Farida Arjuman⁵  Eshrar Osman⁶  Samiruzzaman Samir⁶ 

[1] Academica Solutions, WA1 1RG, London, UK;Bangladesh Council of Scientific and Industrial Research, Dr. Kudrat-I-Khuda Road, 1205, Dhaka, Bangladesh;Department of Biochemistry and Microbiology, North South University, 1229, Dhaka, Bangladesh;Department of Biochemistry and Microbiology, North South University, 1229, Dhaka, Bangladesh;NSU Genome Research Institute (NGRI), North South University, 1229, Dhaka, Bangladesh;National Institute of Cancer Research Hospital, 1212, Dhaka, Bangladesh;SciTech Consulting and Solutions, 1212, Dhaka, Bangladesh;

关键词: Bangladeshi;    Whole genome sequencing;    Single nucleotide variants;    Gene Ontology;    Genome mapping;    NCBI SNP;    NCBI Clinvar;   

DOI  :  10.1186/s13104-021-05514-x

来源: Springer

【 摘 要 】

ObjectiveThe 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.ResultsWe 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.

【 授权许可】

CC BY