A brief history of human disease genetics

M Claussnitzer, JH Cho, R Collins, NJ Cox… - Nature, 2020 - nature.com
… to be identified and enabled a systematic dissection of the genetic basis of … human disease
genetics and provides an opportunity to reflect on lessons learned by the human genetics

Using human genetics to understand the disease impacts of testosterone in men and women

KS Ruth, FR Day, J Tyrrell, DJ Thompson, AR Wood… - Nature medicine, 2020 - nature.com
… Using 2,571 genome-wide significant associations, we demonstrate that the genetic
into the disease impacts of testosterone and highlight the importance of sex-specific genetic

Leveraging human genetics to identify potential new treatments for fatty liver disease

S Romeo, A Sanyal, L Valenti - Cell metabolism, 2020 - cell.com
genetic variation influencing liver disease development and progression is derived from genes
… From this point of view, we focus in this perspective on how human molecular genetics of …

RNA-binding proteins in human genetic disease

F Gebauer, T Schwarzl, J Valcárcel… - … Reviews Genetics, 2021 - nature.com
human genetic disorders. We provide an updated overview of RBPs mutated in genetic
disease … illustrate underlying molecular mechanisms of disease and discuss current therapeutic …

Human genetic factors associated with susceptibility to SARS-CoV-2 infection and COVID-19 disease severity

C Anastassopoulou, Z Gkizarioti, GP Patrinos… - Human genomics, 2020 - Springer
genetic factors may account for the predisposition of individuals to develop severe disease
… on the associations between specific human genetic variants and clinical disease severity or …

[HTML][HTML] The influence of evolutionary history on human health and disease

ML Benton, A Abraham, AL LaBella, P Abbot… - … Reviews Genetics, 2021 - nature.com
… The presence of homology in a human gene or system of study suggests potential as a
model system; however, homology alone is not sufficient justification. Environmental and life …

The genetics of human ageing

D Melzer, LC Pilling, L Ferrucci - Nature Reviews Genetics, 2020 - nature.com
… animals apply to humans. Furthermore, drugs with support from human genetic studies for
… their 50s 58 found that genetic risk of Alzheimer disease was associated with mild cognitive …

Combined effects of host genetics and diet on human gut microbiota and incident disease in a single population cohort

Y Qin, AS Havulinna, Y Liu, P Jousilahti, SC Ritchie… - Nature Genetics, 2022 - nature.com
… A fine-tuned interplay between microbial and human physiologies can impact multiple … with
disease 1,2 . As such, increasing evidence points to the influence of human genetic variation …

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

JD Szustakowski, S Balasubramanian, E Kvikstad… - … genetics, 2021 - nature.com
… have deep experience in areas such as disease biology, chemistry and translational
research. In contrast, the inclusion of human genetics expertise varies between companies and …

Genetic impacts on DNA methylation: research findings and future perspectives

S Villicaña, JT Bell - Genome biology, 2021 - Springer
… complex human phenotypes, with potential insights for human disease onset and progression.
In this review, we summarize recent milestones in characterizing the human genetic basis …