2024/06/20 by Renato Santos, Víctor Moreno‐Torres, Ilduara Pintos +4 · 1 voice
Biochemistry, Genetics and Molecular Biology · Medicine · #Genomics and Rare Diseases #vaccines and immunoinformatics approaches #SARS-CoV-2 and COVID-19 Research
paper · pdf · doi:10.46471/gigabyte.127
openalex publication_date 2024/06/20 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/31
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.