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CancerVar: A New Bioinformatics Tool Developed for Clinical Interpretation of Cancer Mutations

XTalks

Millions of somatic cancer variants have been identified due to precision medicine and next-generation sequencing (NGS). On Saturday, researchers at the Children’s Hospital of Philadelphia (CHOP) have announced that they developed and launched a new bioinformatics software tool called CancerVar (cancer variant interpretation).

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Deluge of DNA changes drives progression of fatal melanomas

Scienmag

Credit: WEHI, Australia Melbourne researchers have revealed how melanoma cells are flooded with DNA changes as this skin cancer progresses from early, treatable stages through to fatal end-stage disease.

DNA 96
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Personalising whole genome sequencing doubles diagnosis of rare diseases 

Drug Discovery World

A new study led by Medical Research Council-funded researchers from UCL has found that tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases. . Consequently, the UK has established itself at the forefront of diagnostic whole genome sequencing. Context .

Genome 52
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Start-up hopes to boost production of viral vectors for ATMPs

Drug Discovery World

The company’s DNA-based platform is being developed to address manufacturing challenges associated with the production of recombinant adeno-associated virus (rAAV) vectors used to produce advanced therapy medicinal products (ATMPs).

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How Phosphorus’ GeneCompass Preventative Genetic Test Can Help People Manage Their Health

XTalks

Phosphorus, a leading preventative genomics company, has developed the first comprehensive preventative genetic test for consumers. Like other consumer genomic tests, the Phosphorus GeneCompass test also involves the collection of saliva samples that consumers send to the Phosphorus lab located in Secaucus, NJ for analysis.

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The future of genomic medicine: can it fulfil its promises?

pharmaphorum

Here he gives us a deeper look at how genomic medicine is evolving and the barriers that are preventing it from reaching its full potential. I saw this, in particular, with the finishing of the human genome,” says Charlie. “At At that time, we thought this would be the holy grail for medicine.

Genome 107
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The microbiome in precision medicine

Drug Discovery World

An industry overview of the role of the microbiome in precision medicine, and its interplay with research tools, diagnostics, and therapeutic development. But what advancements are taking place within microbiome-based precision medicine and how is it being used within oncology?