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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. Giving participants something in return.

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Hidden genetic defects contain real risks for serious diseases

Scienmag

Genome test for consanguineous couples makes sense For the first time researchers from Hebrew University of Jerusalem, Radboudumc, Maastricht UMC+ and international colleagues have gained insight into the “hidden genetic defects” of the general European population.

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

XTalks

Expeditious and accurate diagnoses are necessary for patients to access healthcare services and treatment options for rare genetic diseases. Increasing the efficiency of case analysis and interpretation is essential to providing timely care for patients with genetic diseases.

Genome 98
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Nucleome raises £37.5m to shine light on ‘dark genome’

pharmaphorum

million ($40 million) first-round financing that will be used to explore so-called ‘dark’ regions of the human genome. M Ventures’ Dr Bauke Anninga said that that the startup has a “differentiated platform technology has the potential to fundamentally shift the way we discover and develop precision medicines.

Genome 59
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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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Why a recent advancement is a giant leap for human genomics

Drug Discovery World

The first complete, gapless sequence of a human genome was published 1 April 2022 in a special issue of the journal Science 1. While The Human Genome Project mapped about 92% of the human genome two decades ago, sequencing the last 8% of the genome proved highly challenging.

Genome 52
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Why Trusted Research Environments are key to the future of genomics  

Drug Discovery World

Genomics is driving a revolution in drug development and, in the long run, the state of public healthcare. The first draft human genome took a decade to create, and 13 years to complete. A robust environment will contain secure access controls that can prevent and detect misuse of data.

Genome 52