[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 …

Genome interpretation using in silico predictors of variant impact

P Katsonis, K Wilhelm, A Williams, O Lichtarge - Human genetics, 2022 - Springer
Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …

Ensembl 2021

KL Howe, P Achuthan, J Allen, J Allen… - Nucleic acids …, 2021 - academic.oup.com
Abstract The Ensembl project (https://www. ensembl. org) annotates genomes and
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 …

Effect of host genetics on the gut microbiome in 7,738 participants of the Dutch Microbiome Project

EA Lopera-Maya, A Kurilshikov, A van der Graaf, S Hu… - Nature …, 2022 - nature.com
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 …

Biodiversity loss, emerging pathogens and human health risks

DS Schmeller, F Courchamp, G Killeen - Biodiversity and conservation, 2020 - Springer
Outbreaks of emerging infectious diseases are occurring with increasing frequency and
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 …

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 …

[PDF][PDF] Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe

G Kerner, AL Neehus, Q Philippot, J Bohlen, D Rinchai… - Cell genomics, 2023 - cell.com
Ancient genomics can directly detect human genetic adaptation to environmental cues.
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 …