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Public Health England

Team Shows Diagnostic Potential for Oxford Nanopore SARS-CoV-2 Assay, Calls for Improvements
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A clinical evaluation of LamPore, expected to be CE marked shortly, called it promising for high-throughput testing but recommended a more streamlined workflow.

UK COVID-19 Sequencing Consortium Launches With £20M in Government, Wellcome Trust Funding

The consortium, which spans more than a dozen UK cities, will sequence patient samples to understand the spread and evolution of the novel coronavirus.

PerkinElmer SCID Test Chosen for Newborn Screening Evaluation in England

Public Health England will use the company's Victor EnLite instrument and EnLite Neonatal TREC kit at three of six sites to evaluate screening newborns for "Bubble Boy" disease.

Nanopore Sequencing Confirms Zoonotic Source for Lassa Fever Outbreak in Nigeria

Using real-time nanopore metagenomic sequencing, researchers ruled out enhanced human-to-human transmission of Lassa virus during an outbreak in Nigeria last year.

UK Effort to Sequence 3K Bacterial Genomes Nears Goal

Scientists have sequenced more than 2,700 distinct strains from the National Collection of Type Cultures, a non-profit biorepository run by Public Health England.

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The Scan

Study Examines Insights Gained by Adjunct Trio RNA Sequencing in Complex Pediatric Disease Cases

Researchers in AJHG explore the diagnostic utility of adding parent-child RNA-seq to genome sequencing in dozens of families with complex, undiagnosed genetic disease.

Clinical Genomic Lab Survey Looks at Workforce Needs

Investigators use a survey approach in Genetics in Medicine Open to assess technologist applications, retention, and workforce gaps at molecular genetics and clinical cytogenetics labs in the US.

Study Considers Gene Regulatory Features Available by Sequence-Based Modeling

Investigators in Genome Biology set sequence-based models against observational and perturbation assay data, finding distal enhancer models lag behind promoter predictions.

Genetic Testing Approach Explores Origins of Blastocyst Aneuploidy

Investigators in AJHG distinguish between aneuploidy events related to meiotic missegregation in haploid cells and those involving post-zygotic mitotic errors and mosaicism.