By combining conventional karyotyping and low-pass sequencing, researchers found chromosomal abnormalities in 1 in 8 couples with recurrent miscarriage.
Investigators saw signs that risky TP53 missense mutations may interfere with wild type copies of the tumor suppressor gene in acute myeloid leukemia and other myeloid cancers.
The grant recipients will receive up to $5 million each and are led by scientists at institutions including Harvard Medical School and the Cleveland Clinic.
Researchers tracked down monogenic risk variants, carriers, disease culprits, and more for 50 individuals with cardiomyopathy and 50 unaffected participants.
Researchers at Harvard, Peking University, and Yikon Genomics suggested that their noninvasive test is more specific than the prevailing biopsy-based method.
Harvard and Brigham and Women's Hospital researchers will help guide Sanford in using and interpreting data collected through its Sanford Chip pharmacogenomic test.
A pair of new studies evaluated the effectiveness of cytologic and HPV-based testing approaches at varied screening intervals for identifying women at risk of cervical cancer.
