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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 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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As the Smithsonian wraps a landmark genome exhibit, leaders in the field reflect on what’s changed

STAT News

When the Smithsonian National Museum of Natural History opened its genomics exhibit in 2013, the field was just celebrating the 10th anniversary of the completed Human Genome Project. Sequencing that first genome cost over $500 million. The genomes since cost $10,000.

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Exa-Cel CRISPR Gene Therapy for Sickle Cell Disease Deemed Safe by FDA Advisory Panel

XTalks

After spending almost an entire day deliberating the safety of Vertex Pharmaceuticals’ and CRISPR Therapeutics’ CRISPR-based gene therapy exa-cel for sickle cell disease, a US Food and Drug Administration (FDA) advisory panel appears to be satisfied with what it saw. CRISPR works as genetic scissors to edit parts of the genome.

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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. Unsurprisingly, in many respects, the human genome turned out to be a lot more complex than was originally thought. Yet, this can be treated simply by administering a type of vitamin B6. “It’s

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Reference genome comparison finds exome variant discrepancies in 206 genes

Scienmag

HOUSTON – (June 14, 2021) – In the two decades since the Human Genome Project mapped the entire human genome, improvements in technology have helped in developing updated reference genomes used for sequencing.

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

pharmaphorum

Pharma has used this to begin creating targeted treatments, such as gene therapies , which are able to hone in on gene mutations that cause health issues and eradicate or replace the faulty gene. The information gathered from the project is still providing insights today, a decade later.