Researchers from Children’s Hospital of Philadelphia (CHOP) recently discovered that extremely thorough “deep sequencing” of the genome in tissue samples and cell-free DNA of patients with potentially life-threatening vascular anomalies captured several genetic variants related to disease that were not captured with conventional genetic sequencing methods.
More than 60% of patients saw an improvement in their condition after being placed on targeted therapies related to these newly found genetic variants. The findings were published in the journal Nature Medicine.
