Volume 54 Issue 1, January 2022

Complex disease definitions often represent descriptive umbrella terms of symptoms rather than mechanistic entities. A new study shows how network-based approaches can help identify the mechanisms that link genes, cells, tissues and organs in cardiovascular diseases.

Transcriptomic analyses of 255 primary human microglial samples from 100 individuals highlight brain region, age, sex and disease states as sources of microglial heterogeneity. Molecular quantitative trait locus analyses implicate variants involved in neurological diseases through effects on gene expression and splicing.

Genome-wide association analyses of DNA methylation in peripheral blood from 3,799 Europeans and 3,195 South Asians identify unique SNP–CpG associations (meQTL), providing insights into molecular mechanisms and the potential links to phenotypic variation.

Analysis of real traits in the UK Biobank demonstrates that large uncertainty in polygenic risk score (PRS) estimates at the individual level impacts the interpretation of subsequent analyses such as PRS-based stratification.

Genome-wide association analyses identify variants associated with thoracic aortic diameter. A polygenic score for ascending aortic diameter was associated with a diagnosis of thoracic aortic aneurysm in independent samples.

Bidirectional Mendelian randomization analyses in 3,432 Chinese individuals identify putative causal relationships between the gut microbiome and blood metabolite levels.

Phylogenomic and genetic analyses identify an ancestral module of genes expressed specifically in ciliated left–right organizer tissue and required for left–right axis specification in humans and certain vertebrates.

Two divergent haplotypes from a highly heterozygous lychee genome of the cultivar ‘Feizixiao’ and resequencing of 72 lychee accessions provide insights into the genome evolution and domestication history of lychee.

The PARTHENOGENESIS (PAR) gene is identified in apomictic dandelion. A dominant allele has a MITE transposon insertion similar to that found in apomictic hawkweed. Expression of dandelion PAR in lettuce induces embryo-like structures without fertilization.