As genomic sequencing becomes increasingly popular and accessible, an effort called the BabySeq Project aims to explore the medical, behavioral, economic and ethical impacts of adding genomic sequencing to the roster of screenings for newborns.
A study reveals that when Dna2 is absent, small DNA fragments jump from all over the genome into chromosome breaks. This novel mechanism may explain similar events commonly seen in cancer or during antibody diversification.
A special issue of the journal Human Mutation contains 25 papers related to the activities of the National Human Genome Research Institute-funded Clinical Genome Resource program (ClinGen) and ClinVar.
The Undiagnosed Diseases Network, a consortium of researchers including Baylor College of Medicine, Texas Children’s Hospital, Stanford University and other institutions, has found 31 new syndromes within two years of the group’s inception.