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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.

Genetics 119
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Junk DNA: How the dark genome is changing RNA therapies

Drug Discovery World

Samir Ounzain , PhD, CEO & Co-Founder of HAYA Therapeutics, looks at how a better understanding of our DNA can lead to increased activity for RNA therapeutics. In actuality, the protein-coding portion of our genome is comparable in identity and number with the humble fruit fly or worm.

RNA 52
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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 124
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Why genomic healthcare data matters in the development of new therapies 

Drug Discovery World

One might argue that this all started getting exciting with the launch of the Human Genome Project, which the National Human Genome Research Institute consider to be one of the greatest scientific feats in history 1. DDW’s Megan Thomas observes developments of accessibility in this sector and the potential impact. .

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. The study .

Genome 52
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Q&A: Gene therapy opportunities from long-read sequencing 

Drug Discovery World

Breakthroughs in gene therapy are only possible with an exact understanding of the genetic underpinnings of disease. To develop safe and effective gene therapies, researchers need confidence that genomic data is both complete and accurate. Recent years have seen a great deal of progress in both short- and long-read 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. But researchers in Nik-Zainal’s study looked at both—mutations that drive cancers, and passenger mutations.