Rare variants

Whole-genome sequencing and population genomics of 218 Aspergillus fumigatus environmental and clinical isolates reveals strong genetic clustering and the occurrences of near-identical genotypes, indicating the infection of patients with resistant isolates from the environment.

Human genetic variants that impair genes that are intolerant of damaging genetic variation are associated with lower reproductive success that is probably mediated by genetically associated cognitive and behavioural traits, particularly in males.

Whole genome sequencing (WGS) data on non-European and admixed individuals remains scarce. Here, the authors analyse WGS data from 1,171 admixed elderly Brazilians from a census cohort, characterising population-specific genetic variation and exploring the clinical utility of this expanded dataset.

This study demonstrates that the burden of protein-truncating variants identified through population-scale exome sequencing impacts how long we live. The authors report four distinct human lifespan genes with roles in cancer and clonal hematopoiesis.

While the consequences of homozygous loss of function variants have been studied, the effect of missense variants is less understood. Here, the authors identify pathogenic genotypes through an observed deficit of homozygous carriers of missense variants in a population, elucidating previously unexplained recessive disease and miscarriage.