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Women in Science Who Have Paved the Way Forward in Genetics

XTalks

The Human Genome Project recently marked 20 years since the publication of the first full sets of human genomic sequences, an endeavor that spanned well over a decade. Today, new next-generation sequencing technologies allow for the sequencing of complex genomes within just a day or two. Rosalind Franklin.

Genetics 119
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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. Moreover, research has shown that genetic testing can reduce adverse reactions to drugs by nearly one third.

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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Personalising whole genome sequencing doubles diagnosis of rare diseases 

Drug Discovery World

In 2018, the UK’s department of health announced an NHS Genomic Medicine Service, which allows patients with rare diseases to have their entire genetic code read in the hope of providing a much-needed diagnosis. Consequently, the UK has established itself at the forefront of diagnostic whole genome sequencing.

Genome 52
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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. However, more immeasurable characteristics such as personality, behaviour, and even intelligence are all influenced by genetics to varying degrees. metres of supercoiled DNA contained within its nucleus. The first human genome cost $2.7bn to sequence.

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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 future of genomic medicine: can it fulfil its promises?

pharmaphorum

Last week geneticist Dr Charles Steward shared with us his experiences of searching for a genetic cause for his children’s rare neurological diseases. 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. This allows for much lengthier reads.

Genome 119