Genetic studies now identify millions of variants across human populations, yet most disease-associated signals fall outside protein-coding regions. This ...

For patients facing a rare disease, a genetic test isn’t the end of their story; it’s often just the beginning. A test result may point to a diagnosis, or it may reveal a genetic variant that we have ...

ROCKVILLE, Md. – Dec. 13, 2022 – The Association for Molecular Pathology (AMP), the premier global molecular diagnostic professional society, has published a report that was designed to assess ...

Understanding how the wealth of genetic variation in the human genome impacts on disease could potentially transform healthcare, but while we know the consequences of perhaps a handful of specific ...