Population

Population name Latini
Genome GRCh38
Consortium Not specified
Super population EUR
Population description 131 Italian COVID-19 positive patients.
Population origin Southern Europe
Case population size 131
Control population size 5341
Comorbidities not specified
Mean / median age Median age was 63.7
Sex 82 males, 49 females
Severity TBD
Sample source Whole blood
Method WES using Twist Human Core Exome Kit and sequenced on the Illumina NovaSeq 6000 platform. Four genes (TMPRSS2, PCSK3, DPP4, and BSG) were analysed and allelic frequency compared to the EUR GnomAD reference population.
Bioinformatics Illumina BaseSpace pipeline and TGex software used for the variant calling and annotation (30x coverage). Variants were examined for coverage and Qscore using the Integrative Genome Viewer. Protein effect prediction: PolyPhen2, Mutation Taster, SIFT, MetaLR_pred, MetaSVM_pred.
Imputation details not specified
Limitations Require larger independent cohorts as well as functional studies to evaluate the effect of the detected genetic variant. The number of subjects is too small to stratify them on the basis of clinical characteristics and clinical phenotypes.