Katherine Chao talks about her work managing the Genome Aggregation Database (gnomAD) and the importance of diverse datasets in rare disease diagnosis.
Whole genomes from hundreds of thousands of people reveal new complexity in how the nuclear and mitochondrial genomes interact, which may influence how cells produce energy.
A blood disorder increasingly common in older ages, called clonal hematopoiesis of indeterminate potential (CHIP), doubles a person’s risk of chronic liver disease.
New results from the FinnGen consortium include previously unknown genetic risk factors for many debilitating diseases, potentially facilitating therapeutic development
Using high-coverage whole-genome sequencing and improved analytic approaches, scientists have re-sequenced samples from the project to improve the publicly accessible resource.