Inherited Disease

News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.

Genome.One's GoNavigate test will analyze the genetic risk for 49 disorders, as well as PGx variants related to more than 220 drugs.

With the new certification in hand, the company plans to expand its business in the US through its Pennsylvania-based subsidiary, B. Braun CeGaT.

A study by researchers in Italy found that preimplantation genetic diagnosis and screening combined led to more successful pregnancies per transfer but fewer women had embryos transferred.

RNA sequencing of patient-derived fibroblasts was able to provide 10 percent of patients with a diagnosis after whole-exome sequencing had failed.

At the European Society of Human Genetics annual meeting in Copenhagen this week, several groups presented studies involving automated facial analysis software.