Stanford Medicine researchers sifted through thousands of single nucleotide mutations in DNA to identify fewer than 400 that are functionally associated with inherited cancer risk. Thousands of single ...

In this groundbreaking study, researchers uncover how ultra-rare genetic variants, especially in heart cells, play a critical role in raising the risk of coronary artery disease among individuals of ...

Recent advances in genome sequencing have improved all aspects of uncovering the human genome. One of the unlocked areas includes variant calling, or identifying and cataloging genetic variations, ...

Marcy Richardson from Ambry Genetics discusses the importance of a new study that assessed the functional impact of thousands of BRCA2 variants, identifying those that may increase cancer risk. What ...