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Genomic projects exploit scale as clinical applications play catch-up

Pharmaceutical Technology

Analysing almost eight thousand tumours across 33 different cancers, researchers say this marks the first time that a framework was created to understand the role of internal factors in driving such genomic alterations. Genomic research have greatly expanded our understanding of disease pathophysiology over the years.

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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. β€œAt In reality, finishing the human genome was the first step of what is a long journey.”.

Genomics 119
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As the Smithsonian wraps a landmark genome exhibit, leaders in the field reflect on what’s changed

STAT News

When the Smithsonian National Museum of Natural History opened its genomics exhibit in 2013, the field was just celebrating the 10th anniversary of the completed Human Genome Project. Sequencing that first genome cost over $500 million. The genomes since cost $10,000. Read the rest…

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The pangenome is making personalised medicine more equitable

Pharmaceutical Technology

All that DNA is organised into hereditary units called genes, with humans having about 25,000 genes collectively known as the genome. The Human Genome Project Launched in October 1990, The Human Genome Project sought to sequence the entire human genome using a method called Sanger sequencing.

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Realising the promise of genomic testing across oncology

pharmaphorum

Unlocking the secrets of the human genome has long been an ambitious pursuit for researchers around the world. Today, the landscape of genomic testing and research is rapidly progressing, with significant scientific and technological advances driving a paradigm shift in the understanding of oncology at a molecular level.

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Reference genome comparison finds exome variant discrepancies in 206 genes

Scienmag

HOUSTON – (June 14, 2021) – In the two decades since the Human Genome Project mapped the entire human genome, improvements in technology have helped in developing updated reference genomes used for sequencing.

Genome 40
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Searching for answers in rare epilepsy

pharmaphorum

Geneticist Dr Charles Steward has spent his career studying the human genome – but his work became much more personal when his children were diagnosed with severe neurological diseases. Everything the 100,000 Genomes Project does has to be rubber-stamped by the patients”. For some people, a job is more than just a job.

Genomics 102