Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic

CJA Duncan, MK Skouboe, S Howarth… - Journal of Experimental …, 2022 - rupress.org
Type I interferons (IFN-I) play a critical role in human antiviral immunity, as demonstrated by
the exceptionally rare deleterious variants of IFNAR1 or IFNAR2. We investigated five …

[PDF][PDF] Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

M Kanai, R Elzur, W Zhou, KHH Wu, H Rasheed… - Cell Genomics, 2022 - cell.com
Meta-analysis is pervasively used to combine multiple genome-wide association studies
(GWASs). Fine-mapping of meta-analysis studies is typically performed as in a single-cohort …

[HTML][HTML] Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

D Matuozzo, E Talouarn, A Marchal, P Zhang, J Manry… - Genome medicine, 2023 - Springer
Background We previously reported that impaired type I IFN activity, due to inborn errors of
TLR3-and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type …

Association between COVID‐19 and telomere length: a bidirectional Mendelian randomization study

D Huang, S Lin, J He, Q Wang… - Journal of medical …, 2022 - Wiley Online Library
Several traditional observational studies suggested an association between COVID‐19 and
leukocyte telomere length (LTL), a biomarker for biological age. However, whether there …

[PDF][PDF] An ancient viral epidemic involving host coronavirus interacting genes more than 20,000 years ago in East Asia

Y Souilmi, ME Lauterbur, R Tobler, CD Huber… - Current Biology, 2021 - cell.com
The current severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic has
emphasized the vulnerability of human populations to novel viral pressures, despite the vast …

A harmonized public resource of deeply sequenced diverse human genomes

Z Koenig, MT Yohannes, LL Nkambule… - Genome …, 2024 - genome.cshlp.org
Underrepresented populations are often excluded from genomic studies due in part to a lack
of resources supporting their analyses. The 1000 Genomes Project (1kGP) and Human …

[HTML][HTML] Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19

CI van der Made, MG Netea, FL van der Veerdonk… - Genome Medicine, 2022 - Springer
Since the start of the coronavirus disease 2019 (COVID-19) pandemic, important insights
have been gained into virus biology and the host factors that modulate the human immune …

Systematic review and meta-analysis of human genetic variants contributing to COVID-19 susceptibility and severity

K Gupta, G Kaur, T Pathak, I Banerjee - Gene, 2022 - Elsevier
The COVID-19 pandemic has spawned global health crisis of unprecedented magnitude,
claiming millions of lives and pushing healthcare systems in many countries to the brink …

[HTML][HTML] Nationwide health, socio-economic and genetic predictors of COVID-19 vaccination status in Finland

T Hartonen, B Jermy, H Sõnajalg, P Vartiainen… - Nature Human …, 2023 - nature.com
Understanding factors associated with COVID-19 vaccination can highlight issues in public
health systems. Using machine learning, we considered the effects of 2,890 health, socio …

A phenome‐wide investigation of risk factors for severe COVID‐19

A Baranova, H Cao, S Teng… - Journal of Medical …, 2023 - Wiley Online Library
With the continued spread of COVID‐19 globally, it is crucial to identify the potential risk or
protective factors associated with COVID‐19. Here, we performed genetic correlation …