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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 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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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 108
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A new dawn of the genomic age: five areas set to be transformed in 2023

pharmaphorum

2022 was a banner year for genomics. 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.

Genome 116
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Why genomic healthcare data matters in the development of new therapies 

Drug Discovery World

Genomic healthcare data is critical to identify disease risk, ancestry, traits and response to medicines and aids in the development of new targeted therapies – precision medicines. In April 2003, after its launch in October 1990, the project was completed, generating the first sequence of the human genome.

Genome 98
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Why a recent advancement is a giant leap for human genomics

Drug Discovery World

The first complete, gapless sequence of a human genome was published 1 April 2022 in a special issue of the journal Science 1. While The Human Genome Project mapped about 92% of the human genome two decades ago, sequencing the last 8% of the genome proved highly challenging.

Genome 52
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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