Genomics England
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.
Metabolon, Genomics England Partner to Characterize Rare Disease Metabolomics
The collaboration aims to generate metabolomic data for over 7,000 participants from the UK's 100,000 Genomes Project.
People in the News at Myriad Genetics, Twist Bioscience, Day Zero Diagnostics, Genomics England, More
Executive and academic appointments, promotions, and departures in omics and molecular diagnostics for the week of Oct. 2, 2023.
The National Pathology Imaging Cooperative is building a data repository in Genomics England's "trusted research environment."
ESHG: UK 100K Genomes Project Demonstrates Diagnostic Potential of RNA-seq for Rare Diseases
Early analysis of transcriptomic sequencing data from over 4,400 rare disease patients revealed expression and splicing outliers that are likely disease-causing.
Dec 13, 2022
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