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

pharmaphorum

A 2022 study from the Royal College of Physicians and British Pharmacological Society demonstrated the potential of pharmacogenomics, with scientists identifying the genetic cause behind an individual’s drug response for over forty medicines.

Genome 129
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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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Can genetic data be a magic bullet for drug R&D?

pharmaphorum

The same is becoming true for the healthcare industry, and one of the first major breakthroughs in the area was the 100,000 Genomes Project. The information gathered from the project is still providing insights today, a decade later. Scientists are able to study the aggregated, de-identified genetics of these individuals.

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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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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. At the moment, high mutational burden can be used to determine response to immunotherapies. “We

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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