Marco Galardini, Alexandra Koumoutsi ... Pedro Beltrao
The mechanistic impact of genetic variants can be combined with previous knowledge on gene function to deliver conditional growth predictions and pave the way for personalized genetic interventions.
Monica Sanchez-Contreras, Mariya T Sweetwyne ... Scott R Kennedy
The accumulation of somatic mutations during aging is not uniform across tissue types and, in addition, shows significant variability in the source of mutation that can be modified by small molecule interventions.
Lasse M Blaabjerg, Maher M Kassem ... Kresten Lindorff-Larsen
RaSP is a method for making rapid and accurate predictions of changes in protein stability that enabled us to calculate ~300 million stability changes for nearly all possible single amino acid changes in the human proteome.
Ruth Charlotte Eccleston, Emilia Manko ... Nicholas Furnham
A computational method for predicting evolutionary pathways to antimicrobial resistance, accounting for how epistatic interactions determine trajectories, is described.
Willow Coyote-Maestas, David Nedrud ... Daniel Schmidt
By measuring the impacts of thousands of mutations on potassium channel trafficking and function, we illuminate the molecular basis of folding, structure–function relationships, and how these are altered in disease.
Deep mutational scanning provides new insights into how mutations alter the expression and activity of the potassium ion channel Kir2.1, which is associated with many diseases.
Genomic associations with lifespan principally reflect heart disease/smoking/dementia but not other cancers, and distinguish lifespan differences of five years between top/bottom deciles of a score derived from DNA alone.
Carinna Hockham, Supachai Ekwattanakit ... Frédéric B Piel
The incorporation of as yet underused local epidemiological data on α-thalassaemia in Southeast Asia within a geostatistical model suggests that the burden of severe α-thalassaemia forms may have been underestimated.
Viral dynamic modeling reveals the relationship between SARS-CoV-2 viral load and infectiousness and allows to anticipate the effects of variants of concern and of vaccination on transmission.
Stephen R Daley, Kristen M Coakley ... Jeroen P Roose
A single point mutation in a Ras activator leads to aberrant constitutive mTOR signaling in peripheral T cells that consequently accumulate as abnormal T helper cells and stimulate the production of autoantibodies by B cells.