Prioritization of causal genes from genome-wide association studies by Bayesian data integration across loci.

Motivation: Genome-wide association studies (GWAS) have identified genetic variants, usually single-nucleotide polymorphisms (SNPs), associated with human traits, including disease and disease risk. These variants (or causal variants in linkage disequilibrium with them) usually affect the regulation or function of a nearby gene. A GWAS locus can span many genes, however, and prioritizing which gene or genes in a locus are most likely to be causal remains a challenge.

Attitudes, Beliefs, and Predictors of Gestational Weight Gain and Postpartum Weight Retention in South Africa: A Mixed Methods Analysis.

Suboptimal gestational weight gain (GWG) is associated with pregnancy complications and postpartum weight retention (PPWR). Little data exists about GWG and PPWR attitudes and beliefs in low-and-middle-income countries (LMICs) to inform interventions. We examined GWG and PPWR attitudes, beliefs, and intentions among pregnant people, with and without HIV, in Cape Town, South Africa.

Cell type and dynamic state govern genetic regulation of gene expression in heterogeneous differentiating cultures.

Identifying the molecular effects of human genetic variation across cellular contexts is crucial for understanding the mechanisms underlying disease-associated loci, yet many cell types and developmental stages remain underexplored. Here, we harnessed the potential of heterogeneous differentiating cultures (HDCs), an in vitro system in which pluripotent cells asynchronously differentiate into a broad spectrum of cell types. We generated HDCs for 53 human donors and collected single-cell RNA sequencing data from over 900,000 cells.

Gene regulatory network inference from CRISPR perturbations in primary CD4 T cells elucidates the genomic basis of immune disease.

The effects of genetic variation on complex traits act mainly through changes in gene regulation. Although many genetic variants have been linked to target genes in cis, the trans-regulatory cascade mediating their effects remains largely uncharacterized. Mapping trans-regulators based on natural genetic variation has been challenging due to small effects, but experimental perturbations offer a complementary approach.