Inherited Disease
News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.
Revvity Nabs CE-IVD Mark for Molecular Newborn Screening Platform
The firm said its Eonis Q platform is used to identify spinal muscular atrophy and severe combined immunodeficiency with a turnaround time of about three hours.
Pacific Biosciences, GeneDx, Google Health Partner With New York Center for Rare Diseases
A pilot project will perform genomic testing on 50 patient-parent trios to see if PacBio's long-read sequencing can identify genetic alterations.
New Consortium Aims to Demonstrate Strengths of PacBio Revio Platform for Genetic Disease Research
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HiFi Solves brings together researchers from 15 institutions across 11 countries to study the value of HiFi sequencing in clinical research applications.
Genomics England, Oxford Nanopore Partner for Project to Diagnose Unsolved Rare Disease Cases
As part of the project, Eurofins Genomics is contracted to perform whole-genome nanopore sequencing on 7,500 samples from the 100,000 Genomes Project.
Oxford Nanopore Technologies, Fabric Genomics to Jointly Develop WGS Clinical Analysis Software
The collaboration will initially focus on the use of nanopore sequencing in neonatal and pediatric intensive care units to support rapid disease diagnosis.