Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions

A Wei, R Border, B Fu, S Cullina, N Brandes, SK Jang… - medRxiv, 2023 - medrxiv.org
Over three percent of people carry a dominant pathogenic mutation, yet only a fraction of
carriers develop disease (incomplete penetrance), and phenotypes from mutations in the …

Quantifying higher-order epistasis: beware the chimera

U Chitra, BJ Arnold, BJ Raphael - bioRxiv, 2024 - pmc.ncbi.nlm.nih.gov
Epistasis, or interactions in which alleles at one locus modify the fitness effects of alleles at
other loci, plays a fundamental role in genetics, protein evolution, and many other areas of …

Genetic Association Analysis of Phenotypes Jointly Influenced by a Pair of Interacting Organisms

V Katsianos - 2024 - knowledge.uchicago.edu
The virulence of infectious diseases is usually affected by a combination of a host and at
least one pathogen organism. Previous experiments have revealed that combining genetic …

[PDF][PDF] Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions Angela Wei1, 2, 3, 4, Richard Border5, 6, Boyang Fu5 …

VA Arboleda - medrxiv.org
Investigating the sources of variable impact of pathogenic variants in monogenic metabolic
conditions Angela Wei1,2,3,4, Richar Page 1 Investigating the sources of variable impact of …