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Genomic projects exploit scale as clinical applications play catch-up

Pharmaceutical Technology

The group analysed 12,222 samples collected through whole genome sequencing efforts of the UK National Health Service as part of the 100,000 Genomes Project and added further data on 6,418 cancers from the International Cancer Genome Consortium and the Hartwig Medical Foundation. Both teams had the same underlying goal.

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The pangenome is making personalised medicine more equitable

Pharmaceutical Technology

Basic human traits such as eye and hair colour are determined by our DNA. metres of supercoiled DNA contained within its nucleus. If you were to uncoil all the DNA in your body into a single continuous strand it would be 54 trillion metres in length, enough to stretch from the Earth to the Sun and back 180 times.

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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.

Genome 98
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A new dawn of the genomic age: five areas set to be transformed in 2023

pharmaphorum

In March, the collaborative T2T consortium published the first complete telomere-to-telomere sequence of the human genome, filling in the last 8% of the 3 billion base pairs that make up our DNA. The post A new dawn of the genomic age: five areas set to be transformed in 2023 appeared first on.

Genome 129
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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. The post Realising the promise of genomic testing across oncology appeared first on.

Genome 52
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A history of blood cancer treatment

pharmaphorum

2012 – The 100,000 Genomics Project begins. Unlocking the secrets of the human genome has intrigued investigators for centuries. However, the technology needed to analyse genomic and long-term clinical data is a relatively recent development. This was an entirely new approach to DNA research.

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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. Currently, the most common way of looking at genomes in these settings is by using ‘short-read’ technology. This allows for much lengthier reads.

Genome 119