Medical and Population Genetics Program

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.

A study of a rare bone marrow disorder reveals that even healthy stem cells are vulnerable to iron-induced cell death.

A study analyzing genetic data from nearly 400,000 people shows how rare variants can point to core biological mechanisms underlying common disease

Large-scale Finnish biobank-based study discovers several new disease genes as well as insights into how known genetic factors affect disease

New results from the FinnGen consortium include previously unknown genetic risk factors for many debilitating diseases, potentially facilitating therapeutic development