In addition to its academic merits, characterizing the genetic determinants of male (in)fertility and identifying clinically actionable genetic variants can lead to improved diagnosis or even treatment of such conditions.
A new framework for mutation spectrum analysis reveals multiple independent changes in the germline mutation patterns of human populations, which cannot be explained by shifts in average ages at reproduction.
Gillian Morven Belbin, Jacqueline Odgis ... Eimear E Kenny
A health-system embedding method for genomic discovery and clinical characterization of disease highlights the importance of documenting a wider spectrum of genetic disorders in diverse populations.
ROH-DICE is an efficient method for detecting ROH clusters in biobank data, enabling the study of population history of large cohorts, and providing a new genome-wide association analysis approach for finding disease-causing loci with multi-marker recessive effects.
Phylogenetic and computational methods reveal that at least two seasonal coronaviruses are evolving adaptively in the region of the viral spike protein exposed to the human humoral immune system.
M Elise Lauterbur, Maria Izabel A Cavassim ... Ilan Gronau
Stdpopsim, a framework for generating realistic chromosome-scale simulations, is expanded to facilitate simulations for non-model species, resulting in insights into how such simulations should be designed.
The genomic architecture of allopatric species is a mosaic of many conserved genes and a few adaptive ones, reflecting balance between conservation of ancestral functions and evolution of new features.
