When is genome sequencing advisable? Human geneticists in Leipzig conduct clinical reference study

Scientists from the Broad Institute of MIT and Harvard, Harvard Medical School, and the University of Leipzig Medical Center have shown in two independent patient cohorts when a genome sequencing is beneficial in the diagnosis of genetic diseases. The jointly published study provides valuable insights for diagnostic practice based on a broad dataset from research and clinical applications. The researchers have presented their findings in The New England Journal of Medicine.

Quelle: IDW Informationsdienst Wissenschaft