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Genomic projects exploit scale as clinical applications play catch-up

Pharmaceutical Technology

Earlier this month, scientists from Cambridge University and the Madrid-based National Cancer Research Center described a novel framework tracking chromosomal instability and copy number changes in particularly deadly cancers. 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

However, more immeasurable characteristics such as personality, behaviour, and even intelligence are all influenced by genetics to varying degrees. All that DNA is organised into hereditary units called genes, with humans having about 25,000 genes collectively known as the genome. The first human genome cost $2.7bn to sequence.

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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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64 human genomes as new reference for global genetic diversity

Scienmag

Publication in Science Credit: David Porubsky, University of Washington In 2001, the International Human Genome Sequencing Consortium announced the first draft of the human genome reference sequence. This reference, however, […].

Genome 60
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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. The origins .

Genome 98
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Can genetic data be a magic bullet for drug R&D?

pharmaphorum

Ben Hargreaves finds that the vast amount of genetic data that exists today could help provide a faster, more targeted way of developing new drug candidates. The logical extension to this kind of approach is treating individual patients, with their individual genetic makeup.

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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