Genetic variant discovery making headlines

HudsonAlpha researchers, along with collaborators from around the world announced that they have identified a new genetic disorder that causes intellectual and developmental delay in children. GeneMatcher, an online “matchmaking” system for scientists researching rare genetic variants, connected the team members. The research was published online December 22 in the American Journal of Human Genetics (AJHG).

The discovery made headlines during the holiday break. Check out coverage from Clinical OMICs,, WAAY TV and WHNT