BillionToOne Taps Eluthia as Exclusive Distributor of NIPT in Certain European Countries
The Unity test enables screening for several autosomal recessive conditions from fetal DNA gathered from maternal blood.
The new assay is part of the company's prenatal and women's health offerings, but it is also developing a preeclampsia test and technology for gastrointestinal testing.
MyGene2 Resource Lets Families, Clinicians Searching for Molecular Diagnosis Share Data
MyGene2 holds cases from 1,225 families, submitted by 880 user accounts, which include 723 unique genes, among them many new disease genes.
Transcriptome Sequencing Boosts Diagnosis of Patients With Mitochondrial Disorders
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.