Only three out of 10 sequencing workflows detected all variants in a synthetic reference sample, according to a study presented at ACMG.
At the ACMG meeting, Cynthia Morton said that several projects, including her team’s SEQaBOO study, are exploring the utility of genomic testing in newborn hearing screening.
The team showed that sequencing can diagnose ill babies faster, leading to better outcomes and saving money by reducing unnecessary treatments and procedures.
The firms are collaborating to develop a solution that includes Nightingale's nuclear magnetic resonance assay and PerkinElmer's sequencing services.
Centogene opened a Boston office in December and plans to open a lab there in a few months as it awaits an FDA decision on its clinical tool.
The genetic testing firm can now offer its Prelude noninvasive prenatal test to residents in New York State.
Funded with €15.4 million from the EU's Horizon 2020 program, the researchers plan to reanalyze almost 20,000 patient exomes and conduct additional tests on selected subgroups.
As of this week, the project had sequenced 39,500 genomes and returned reports for about 3,000 rare disease families and more than 600 cancer patients.
MyGene2 holds cases from 1,225 families, submitted by 880 user accounts, which include 723 unique genes, among them many new disease genes.
The companies plan to offer a service called MyMap, which will include MyGenome next-generation sequencing by Veritas and MediMap pharmacogenomic testing by Inova.