{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["19(3)"],"submitter":["Ahmed Z"],"pubmed_abstract":["<b>Aim:</b> A human immunogenetics variation study was conducted in samples collected from diverse COVID-19 populations. <b>Materials & methods:</b> Whole-genome and whole-exome sequencing (WGS/WES), data processing, analysis and visualization pipeline were applied to identify variants associated with genes of interest. <b>Results:</b> A total of 2886 mutations were found across the entire set of 13 genomes. Functional annotation of the gene variants revealed mutation type and protein change. Many variants were found to be biologically implicated in COVID-19. The involvement of these genes was also found in multiple other diseases. <b>Conclusion:</b> The analysis determined that <i>ACE2</i>, <i>TMPRSS4</i>, <i>TMPRSS2</i>, <i>SLC6A20</i> and <i>FYCOI</i> had functional implications and <i>TMPRSS4</i> was the gene most altered in virally infected patients."],"journal":["Personalized medicine"],"pagination":["229-250"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8919975"],"repository":["biostudies-literature"],"pubmed_title":["Investigating underlying human immunity genes, implicated diseases and their relationship to COVID-19."],"pmcid":["PMC8919975"],"pubmed_authors":["Zeeshan S","Ahmed Z","Renart EG"],"additional_accession":[]},"is_claimable":false,"name":"Investigating underlying human immunity genes, implicated diseases and their relationship to COVID-19.","description":"<b>Aim:</b> A human immunogenetics variation study was conducted in samples collected from diverse COVID-19 populations. <b>Materials & methods:</b> Whole-genome and whole-exome sequencing (WGS/WES), data processing, analysis and visualization pipeline were applied to identify variants associated with genes of interest. <b>Results:</b> A total of 2886 mutations were found across the entire set of 13 genomes. Functional annotation of the gene variants revealed mutation type and protein change. Many variants were found to be biologically implicated in COVID-19. The involvement of these genes was also found in multiple other diseases. <b>Conclusion:</b> The analysis determined that <i>ACE2</i>, <i>TMPRSS4</i>, <i>TMPRSS2</i>, <i>SLC6A20</i> and <i>FYCOI</i> had functional implications and <i>TMPRSS4</i> was the gene most altered in virally infected patients.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 May","modification":"2026-05-31T05:01:30.853Z","creation":"2025-02-19T01:53:43.127Z"},"accession":"S-EPMC8919975","cross_references":{"pubmed":["35261286"],"doi":["10.2217/pme-2021-0132"]}}