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Rare Disease Diagnosis: Why Tackling the Genomic Analysis Bottleneck is Key to Advancing Precision Medicine

XTalks

For more information on tackling this “genomic analysis bottleneck,” watch this on-demand webinar. HS: Due to the heterogeneity of the rare disease population, there are many relevant gene lists, and the genomic data analysis of these patients covers almost 2,000 different genetic targets.

Genome 98
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Why early participant engagement is now a top priority in genetic disease research

pharmaphorum

However, the Resilience Project’s scientists had used genomic data originally collected for other studies and, due to limitations in the original studies’ informed consent policies and a lack of infrastructure to recontact participants, none of the 13 individuals could be contacted with follow-up questions or requests.

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Inferring human genomes at a fraction of the cost promises to boost biomedical research

Scienmag

To discover these associations, researchers need to compare the genomes of many individuals at millions of genetic locations or markers, and therefore require cost-effective genotyping technologies. A new statistical method, developed […].

Genome 57
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Cancer, genomics and personalised medicine: Modelling the future of oncology

pharmaphorum

Personalised medicine in practice – where are we now in cancer? How the shift towards cancer as a phenotype/genotype is being applied in clinical trials and how they are run •What are co-clinical trials and why could they hold the key to answering unmet need in cancer treatment and beyond into broader drug development?

Genome 52
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FDA Makes Low-Risk Determination for Marketing of Products from Genome-Edited Beef Cattle After Safety Review

The Pharma Data

Decision Regarding Slick-Haired Cattle is Agency’s First Enforcement Discretion Decision for an Intentional Genomic Alteration in an Animal for Food Use. The IGA results in the equivalent genotype (genetic make-up) and short-hair coat trait seen in some conventionally bred cattle, known as a “slick” coat. Today, the U.S.

Genome 52
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One world, one health: The interconnected web of antimicrobial resistance

pharmaphorum

That’s according to a newly published report from the US National Academies of Sciences, Engineering, and Medicine, which calls for a One Health approach that recognises the scale of the challenge, and the interconnectivity of its potential solutions. Growing threat of AMR. million human infections and 35,900 deaths every year in the US.

Medicine 105
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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.