The study captured genetic variants at extremely low levels, and dozens of patients began new therapies as a result of the findings.

Next installment of CDC’s webinar series.

Study highlights the need to move from populations to individuals in genomic medicine.

With Moderna Inc. global fellowship award, CWRU School of Medicine researchers hope to develop process that overcomes challenge of targeting diseased cells.

These advances will allow researchers and clinicians to better interpret potential disease-causing variants in an individual, connecting them to regulatory sites, nearby genes...

A computational approach developed by Mount Sinai researchers helps identify previously unknown genetic causes of primary lymphedema, thoracic aortic aneurysm disease, and congenital...

Largest known study of its kind also shows risk is shared across ethnicities.

Software opens the door for a greater number of complete genome sequences.

Scientists link dozens of new genome sites to coronary artery disease risk and pioneer a powerful method for illuminating the biological roots of common disease.

Study on understudied non-chromosomal birth defects provides information critical to potential early detection of malignant tumors.