Medical and Population Genetics Program

A genetic variant with Indigenous American ancestral origins may explain why more Hispanic/Latino children are diagnosed with acute lymphoblastic leukemia (ALL)

Strategy infers whether variants that appear in the same gene are on the same copy of that gene, could improve genetic diagnosis of disease

Insights will help scientists study coding and non-coding regions that, when mutated, may cause disease

Non-invasive method has the potential to survey the entire fetal exome without the need for amniocentesis   

Analysis of more than 314,000 cells from rheumatoid arthritis tissue defines six types of inflammation involving diverse cell types and disease pathways

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