Transcript alterations often result from somatic changes in cancer genomes 1 . Various forms
of RNA alterations have been described in cancer, including overexpression 2 , altered …

The assumption that human mitochondrial DNA is inherited from one parent only and therefore
does not recombine is questionable. Linkage disequilibrium in human and chimpanzee …

Determining the amount of recombination in the genealogical history of a sample of genes is
important to both evolutionary biology and medical population genetics. However, recurrent …

Identifying interactions between genetics and the environment (GxE) remains challenging.
We have developed EAGLE, a hierarchical Bayesian model for identifying GxE interactions …

Trait-associated genetic variants affect complex phenotypes primarily via regulatory mechanisms
on the transcriptome. To investigate the genetics of gene expression, we performed cis…

The incidence of acute myeloid leukaemia (AML) increases with age and mortality exceeds
90% when diagnosed after age 65. Most cases arise without any detectable early symptoms …

A complete understanding of how exposure to environmental substances promotes cancer
formation is lacking. More than 70 years ago, tumorigenesis was proposed to occur in a two-…

Schizophrenia likely results from poorly understood genetic and environmental factors. We
studied the gene encoding the synaptic protein SHANK3 in 285 controls and 185 …

While many disease-associated variants have been identified through genome-wide association
studies, their downstream molecular consequences remain unclear. To identify these …

Biobanks facilitate genome-wide association studies (GWASs), which have mapped genomic
loci across a range of human diseases and traits. However, most biobanks are primarily …