Genetics and epigenetics

Combining metabolomics and DNA sequencing could be the key to discovering new inborn errors of metabolism in children.

Genomic research has a diversity problem that could restrict the future effectiveness of precision medicine for minority groups

New guidelines for CYPC29 genotyping ensure that the correct alleles are tested and patients are prescribed the correct doses of common drugs

We speak to bioengineer Stephen Quake to learn about the noninvasive prenatal tests that have saved thousands of pregnant women’s lives

Triple-negative breast cancer is not a single entity, and understanding each patient’s molecular subtype can influence treatment and outcomes

The move to in-house next-generation sequencing has resulted in time and tissue savings, and improved collaboration across cancer care specialties

A new detection method enhances circular RNA’s potential as a cancer biomarker and forms the basis of a new database

We sit down with England’s Chief Scientific Officer, Professor Dame Sue Hill, to learn how genomics will influence the future of pathology.

Variants in the FUT2 gene may increase susceptibility to otitis media by altering the microbiome of the middle ear

The FLEX breast cancer registry intends to collect complete information on 10,000 patients over the course of 10 years