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. |