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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.

Genomics 127
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Why early participant engagement is now a top priority in genetic disease research

pharmaphorum

In 2016, scientists behind a study called the Resilience Project analysed genetic data from 589,000+ people and found 13 adults who carried genetic variants that should have resulted in serious – even deadly – childhood disease, but who were apparently healthy. A decidedly contentious area in genomics is the patient’s ‘right not to know’.

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Collaboration between AbbVie, Biogen and Pfizer creates world’s largest browsable resource linking rare protein-coding genetic variants to human health and disease

The Pharma Data

Managed by the Broad Institute of MIT and Harvard, the browser gives access to results from analyses of whole exome sequencing data from 300,000 UK Biobank research participants. About the UK Biobank. (Nasdaq: BIIB) and Pfizer (NYSE: PFE). For more than 170 years, we have worked to make a difference for all who rely on us.

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

pharmaphorum

The cost of testing per human genome in 2006 was approximately $14 million , and in less than two decades, an average consumer-purchased genetic test costs $100. 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.

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WORLD’S LARGEST BROWSABLE RESOURCE LINKING RARE PROTEIN-CODING GENETIC VARIANTS TO HUMAN HEALTH AND DISEASE

The Pharma Data

Managed by the Broad Institute of MIT and Harvard, the browser gives access to results from analyses of whole exome sequencing data from 300,000 UK Biobank research participants. This browser will enable scientists worldwide to explore and utilize the data for their respective areas of interest in accordance with UK Biobank’s terms of use.

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New Research Reveals How Air Pollution May Trigger Lung Cancer

XTalks

Now, scientists have found a mechanism that may help explain how pollutants in the air can turn cells cancerous. They performed ultra-deep genomic profiling of normal lung tissue samples and tissues exposed to PM (both human and mouse tissues) and examined the effects of the PM on tumor promotion in mouse lung cancer models.

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Biorepositories as a Guiding Resource for Research & Drug Discovery

XTalks

The power of leveraging clinical data to decipher disease mechanisms and fuel drug discovery has rapidly grown in the era of genomics and personalized medicine. Biobanks are used for the coordination of high-yield patient sample collection. Generation of strong research dataset cohorts must begin with high-quality clinical samples.