Diagnostic WGS will be centralized and performed at the same Genomics England facility used in the 100,000 Genomes Project.
Seventy-eight percent of participants had at least one positive carrier screening result and 3.5 percent had a medically actionable secondary finding.
The Hartwig Medical Foundation currently sequences about 7.5 percent of all metastatic cancer biopsies in the Netherlands, processing 250 to 300 samples per month.
In a training subset of the larger cohort, the company was able to develop classifiers that detected many cancers while minimizing false positives.
Miami-based Nicklaus will send patient blood samples to Rady Children's in San Diego for WGS, bioinformatics analysis, and initial clinical interpretation.
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.