A systematic genetic analysis comprising seven genome-wide screens in haploid human cells uncovered new regulatory mechanisms at most levels in the WNT signaling pathway.

Depiction of novel human genomic safe harbour loci that have been validated in vitro for safety and stable expression in human embryonic stem cells and cell types from all the three germ lineages.

A gene-centric functional screen uncovers biological mechanisms underlying genome-wide association study signals for human red blood cell traits.

By comparing gene expression in people before and after they received the influenza vaccine, researchers were able to identify genes that contribute to differences in individual responses to vaccination.

It is always better to use mixed effects models over principal components association regression for genetic association studies of continuous traits, since the former models family structure and close relatives are always found in real human studies.

Although cellular organelles show a functional deterioration in aging, genetic loci associated with common age-associated disease instead nominate nuclear transcription factors across several age-related diseases.

The human PGBD5 gene encodes an active DNA transposase.

An integrative approach, combining genetic mouse and large-scale human genetics studies, was used to reveal a novel role for the Bcl-2 protein Bid in maintenance of mitochondrial function that alters susceptibility to myocardial infarction.

Common nuclear genetic variants are associated with fundamental biological processes occurring in human mitochondria and potentially point to novel roles for nuclear genes in transcriptional regulation of the mitochondrial genome.

An innovative strategy in genome analysis has generated a detailed description of how pathogens mutate when facing human genetic diversity.