[PDF][PDF] From rare disorders of immunity to common determinants of infection: Following the mechanistic thread
JL Casanova, L Abel - Cell, 2022 - cell.com
The immense interindividual clinical variability during any infection is a long-standing
enigma. Inborn errors of IFN-γ and IFN-α/β immunity underlying rare infections with weakly …
enigma. Inborn errors of IFN-γ and IFN-α/β immunity underlying rare infections with weakly …
Genome interpretation using in silico predictors of variant impact
Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
Ensembl 2021
Abstract The Ensembl project (https://www. ensembl. org) annotates genomes and
disseminates genomic data for vertebrate species. We create detailed and comprehensive …
disseminates genomic data for vertebrate species. We create detailed and comprehensive …
Trans-ancestry analysis reveals genetic and nongenetic associations with COVID-19 susceptibility and severity
JF Shelton, AJ Shastri, C Ye, CH Weldon… - Nature Genetics, 2021 - nature.com
COVID-19 presents with a wide range of severity, from asymptomatic in some individuals to
fatal in others. Based on a study of 1,051,032 23andMe research participants, we report …
fatal in others. Based on a study of 1,051,032 23andMe research participants, we report …
Effect of host genetics on the gut microbiome in 7,738 participants of the Dutch Microbiome Project
Host genetics are known to influence the gut microbiome, yet their role remains poorly
understood. To robustly characterize these effects, we performed a genome-wide …
understood. To robustly characterize these effects, we performed a genome-wide …
Biodiversity loss, emerging pathogens and human health risks
Outbreaks of emerging infectious diseases are occurring with increasing frequency and
consequences, including wildlife diseases and zoonoses. Those have potentially long …
consequences, including wildlife diseases and zoonoses. Those have potentially long …
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 …
of resources supporting their analyses. The 1000 Genomes Project (1kGP) and Human …
From second thoughts on the germ theory to a full-blown host theory
JL Casanova - Proceedings of the National Academy of …, 2023 - National Acad Sciences
In 1955, René Dubos famously expressed his “second thoughts on the germ theory”,
attributing infectious diseases to various “changing circumstances” that weaken the host by …
attributing infectious diseases to various “changing circumstances” that weaken the host by …
[PDF][PDF] Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe
Ancient genomics can directly detect human genetic adaptation to environmental cues.
However, it remains unclear how pathogens have exerted selective pressures on human …
However, it remains unclear how pathogens have exerted selective pressures on human …
Red blood cell tension protects against severe malaria in the Dantu blood group
SN Kariuki, A Marin-Menendez, V Introini, BJ Ravenhill… - Nature, 2020 - nature.com
Malaria has had a major effect on the human genome, with many protective polymorphisms—
such as the sickle-cell trait—having been selected to high frequencies in malaria-endemic …
such as the sickle-cell trait—having been selected to high frequencies in malaria-endemic …