| Autor: |
Renato Santos, Víctor Moreno-Torres, Ilduara Pintos, Octavio Corral, Carmen de Mendoza, Vicente Soriano, Manuel Corpas |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
GigaByte (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2709-4715 |
| DOI: |
10.46471/gigabyte.127 |
| Popis: |
Despite the advances in genetic marker identification associated with severe COVID-19, the full genetic characterisation of the disease remains elusive. This study explores imputation in low-coverage whole genome sequencing for a severe COVID-19 patient cohort. We generated a dataset of 79 imputed variant call format files using the GLIMPSE1 tool, each containing an average of 9.5 million single nucleotide variants. Validation revealed a high imputation accuracy (squared Pearson correlation ≈0.97) across sequencing platforms, showcasing GLIMPSE1’s ability to confidently impute variants with minor allele frequencies as low as 2% in individuals with Spanish ancestry. We carried out a comprehensive analysis of the patient cohort, examining hospitalisation and intensive care utilisation, sex and age-based differences, and clinical phenotypes using a standardised set of medical terms developed to characterise severe COVID-19 symptoms. The methods and findings presented here can be leveraged for future genomic projects to gain vital insights into health challenges like COVID-19. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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