BabySeq, MedSeq projects reveal how many people carry genetic risk variants for rare diseases

Brigham Women's Hospital |
October 2018
Press Release

More information on newborn and adult sequencing studies unveiled at the 2018 American Society for Human Genetics Meeting in San Diego, CA.

Two projects in which healthy individuals have had their genomes sequenced have revealed that searching for unanticipated genetic results in newborns and adults can unearth far more variants associated with diseases than previously thought, and, importantly, reveal previously unrecognized but related clinical features of genetic conditions. Results from both the BabySeq Project, led by investigators at Brigham and Women’s Hospital and Boston Children’s Hospital, and the MedSeq Project, led by investigators at the Brigham, are being presented together at the 2018 American Society for Human Genetics meeting.

For full list of Genomes2People talks and posters, click here.