Cell-free DNA (cfDNA) derived from tumours is present in the plasma of cancer patients. The
majority of currently available studies on the use of this circulating tumour DNA (ctDNA) deal …

Human health is determined by the interaction of our environment with the genome,
epigenome, and microbiome, which shape the transcriptomic, proteomic, and metabolomic …

All living things experience an increase in entropy, manifested as a loss of genetic and
epigenetic information. In yeast, epigenetic information is lost over time due to the …

Nuclear compartments are prominent features of 3D chromatin organization, but sequencing
depth limitations have impeded investigation at ultra fine-scale. CTCF loops are generally …

Genome-wide association studies (GWAS) have identified thousands of noncoding loci that
are associated with human diseases and complex traits, each of which could reveal insights …

The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders, but …

More than 800 million people suffer from kidney disease, yet the mechanism of kidney
dysfunction is poorly understood. In the present study, we define the genetic association with …

The human brain has undergone substantial change since humans diverged from
chimpanzees and the other great apes,. However, the genetic and developmental programs …

DNase I hypersensitive sites (DHSs) are generic markers of regulatory DNA,,,–and contain
genetic variations associated with diseases and phenotypic traits,–. We created high …

Genetic liability to substance use disorders can be parsed into loci that confer general or
substance-specific addiction risk. We report a multivariate genome-wide association meta …