When a patient's DNA is read, it is compared with a reference version of the human genome. This allows geneticists and rare disease experts to look at a list of places where the patient's DNA differs.

Myeloid leukemias are among the most aggressive blood cancers and have low survival rates. Today, leukemia patients undergo genetic analysis to identify mutations and select the most appropriate ...

In simple terms: a mutation is a stable change in genetic sequence that can be copied when cells or viruses replicate. Most mutations have no detectable effect, some contribute to disease, and a small ...

A new study headed by teams at the Wellcome Sanger Institute, EMBL’s European Bioinformatics Institute (EMBL-EBI), and Open Targets has indicated how mutations that cause cancer drug resistance fall ...

A study demonstrates that the 'previous state' of blood stem cells plays a decisive role in the subtype of leukemia that develops. The new technique, called STRACK, allows monitoring of the evolution ...

Autism spectrum disorder (ASD) is associated with more than 1,200 risk genes, raising a fundamental question: Do these ...

KRAS mutations lead to excessive cell growth due to alterations in the KRAS gene. They are present in a significant percentage of non-small cell lung cancers (NSCLC). Diagnosis involves testing ...

A common mutation in the KRAS gene is associated with improved overall survival in pancreatic ductal adenocarcinoma (PDAC) compared with other variants, in part because the mutation appears to lead to ...