One-stop shop for disease genes

摘要

When Heidi Rehm surveys a patient s genes and finds a variant she's never seen before, she improvises. First Rehm, who directs a clinical genetics testing laboratory at Partners HealthCare in Cambridge, Massachusetts, checks through as many as ten databases to learn whether that variant has ever been associated with disease. Then she may ask colleagues at other clinical sequencing laboratories whether they have seen it. But the launch this week of a database known as ClinVar will make her job much easier - and allow her to ask more sophisticated questions.