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 ...

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 ...

Understanding the genetic mechanisms linking genome variations, such as single-nucleotide polymorphisms (SNPs), to phenotypes is challenging. Quantitative trait loci (QTLs) are genomic loci that ...

Thousands of single changes in the nucleotides that make up the human genome have been associated with an increased risk of developing cancer. But until now, it's not been clear which are directly ...

Hepatic iron deposition (HID) in the reticuloendothelial system (RES) is associated with histological severity in metabolic dysfunction-associated ...

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 ...