Our study introduces a new tool called FUSE (Functional Substitution Estimation) that helps scientists better understand how changes in genes affect proteins.

Researchers have discovered key mutations in certain cancer cells that make them resistant to WRN inhibitors, a new class of ...

Early results from 4,000 babies show that genome sequencing picks up many more serious health conditions than standard newborn screening and is favored by most parents.

DNA analysis of newborns can detect many more preventable or treatable health problems than standard newborn screening does, ...

FA is a progressive neuromuscular disease that causes loss of coordination and mobility. My parents got my test results the ...

Broad Institute and Northwestern University researchers are encouraging others to examine noncoding genes, when investigating ...

DNA analysis of newborns can detect many more preventable or treatable health problems than standard newborn screeni ...

When a gene produces too much protein, it can have devastating consequences on brain development and function.

When a gene produces too much protein, it can have devastating consequences on brain development and function. Patients with an overproduction of protein from the chromodomain helicase DNA binding ...

A WA mum who has wanted a concrete diagnosis for her daughter since the day she was born finally has an answer.

A TEEN has spent the last 10 years in a wheelchair after he was diagnosed with a rare genetic muscular disease known as ...