Daniel Combs, MD, is an Assistant Professor of Pediatrics and Medicine at the University of Arizona. Clinical signs raise suspicion for Prader-Willi syndrome (PWS), but genetic testing confirms it.

Researchers developed STRIPE, a targeted long-read RNA sequencing tool that identifies disease-causing variants missed by ...

For years, two siblings with the distinctive facial features of Treacher Collins syndrome had no genetic explanation for ...

When Wall Street turns bearish on a stock, it’s worth paying attention. These calls stand out because analysts rarely issue grim ratings on companies for fear their firms will lose out in other ...

Researchers at Mass General Brigham Heart and Vascular Institute and collaborators have developed and validated a new genetic ...

A genetic genealogist predicts DNA results in the Nancy Guthrie disappearance could take months after the FBI received a hair ...

A facilitated approach to cascade genetic testing can significantly increase uptake among at-risk relatives of people with newly diagnosed BRCA1/2 mutations, a randomized trial found. Cascade genetic ...

Australia has passed a law banning life insurance companies from denying or restricting coverage based on the results of genetic tests or even based on whether an applicant or their genetic relatives ...

A virtual tool can facilitate cascade genetic testing for relatives of people with cancer who have pathogenic variants, ...

Every cell in the human body squeezes over six feet of DNA into a minuscule speck invisible to the naked eye—like compressing ...

Two New Jersey genetic-testing companies are being sued by IVF patients who claim they were misled about the health of ...

Advances in human genetics are enabling researchers and clinicians to effectively put together a DNA jigsaw puzzle, without ...