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.
A massively parallel analysis of the effects of mutations on amyloid beta nucleation provide the first comprehensive atlas of how mutations alter the formation of amyloid fibrils.
Genomic associations with lifespan principally reflect heart disease/smoking/dementia but not other cancers, and distinguish lifespan differences of five years between top/bottom deciles of a score derived from DNA alone.
Genome-wide association studies have established staphylococcal pyomyositis as a disease whose pathogenesis depends critically on expression of a single toxin, Panton–Valentine leukocidin.
The analysis of the first 1000 revertible protein trap alleles in zebrafish resulted in new functional genomic annotations and produced a panel of potential new models of human disease.
Promoter capture Hi-C in human iPSCs and iPSC-derived cardiomyocytes provides a platform to interrogate gene-regulatory dynamics of cardiomyocyte differentiation and directly links thousands of cardiovascular disease risk loci to hundreds of distal target genes.
Somatically derived genomic mosaicism in the form of increased DNA content and APP copy number in single neurons plausibly has a function in sporadic Alzheimer’s disease and points to functions for single-neuron gene copy number changes.
Increasing levels of glucose-6-phosphate dehydrogenase deficiency are associated with decreasing risk of cerebral malaria, but with increased risk of severe malarial anaemia.
