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http://conacyt.repositorioinstitucional.mx/jspui/handle/1000/8658| Low-coverage whole genome sequencing for a highly selective cohort of severe COVID-19 patients | |
| Renato Santos Victor Moreno-Torres Ilduara Pintos Pascual OCTAVIO CORRAL PAZOS DE PROVENS Carmen de Mendoza Vicente Soriano Manuel Corpas | |
| Acceso Abierto | |
| Atribución-NoComercial-SinDerivadas | |
| https://doi.org/10.1101/2024.01.28.577610 | |
| https://www.biorxiv.org/content/10.1101/2024.01.28.577610v1 | |
| Despite advances in identifying genetic markers associated to severe COVID-19, the full genetic characterisation of the disease remains elusive. This study explores the use of 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, showing GLIMPSE1’s ability to confidently impute variants with minor allele frequencies as low as 2% in Spanish ancestry individuals. We conducted 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 may be leveraged in future genomic projects, providing vital insights for health challenges like COVID-19. | |
| bioRxiv | |
| 29-01-2024 | |
| Preimpreso | |
| Inglés | |
| Público en general | |
| VIRUS RESPIRATORIOS | |
| Versión publicada | |
| publishedVersion - Versión publicada | |
| Aparece en las colecciones: | Materiales de Consulta y Comunicados Técnicos |
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| Fichero | Tamaño | Formato | |
|---|---|---|---|
| Low-coverage whole genome sequencing for a highly selective cohort of severe COVID-19 patients.pdf | 1.37 MB | Adobe PDF | Visualizar/Abrir |