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Ohio State researchers name 19 genes associated with heart muscle disease
COLUMBUS, Ohio – Researchers at The Ohio State University Wexner Medical Center led an international group of experts that worked together to classify 19 genes associated with dilated cardiomyopathy (DCM) as having high impact on the heart muscle disease.
Researchers believe most of DCM has a genetic background, and at least 30% of people with DCM have a family member with the disease. First-degree family members (daughters, sons, brothers, sisters and parents) of a patient with DCM are encouraged to undergo genetic testing for the disease. However, current genetic testing panels analyze dozens, sometimes hundreds of genes, and they often have limited scientific support, making genetic results clinically difficult to interpret.
Credit: Genome 10K Project
Study Take-Aways Unprecedented novel discoveries have implications for characterizing biodiversity for all life, conservation, and human health and disease.
o This finding provides novel avenues of research to increase immune defenses, particularly relevant for emerging infectious diseases, such as the current COVID-19 pandemic. The flagship paper presented whole genome sequence analyses of 16 vertebrate species to illustrate high quality, near error free, near complete, low cost reference genome assemblies.
o Though near 400 species have been sequenced at some level, the quality today reflects a quantum leap in precision sequence details and discovery.
FORT LAUDERDALE/DAVIE, Fla. - Two decades ago, the full genome sequence of humankind was released. It was funded by international government and philanthropic sources at a cost of billions of dollars.
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The Vertebrate Genomes Project (VGP) today announces their flagship study and associated publications focused on genome assembly quality and standardization for the field of genomics. This study includes 16 diploid high-quality, near error-free, and near complete vertebrate reference genome assemblies for species across all taxa with backbones (i.e., mammals, amphibians, birds, reptiles, and fishes) from five years of piloting the first phase of the VGP project.
Nature, with companion papers simultaneously published in other scientific journals, the VGP details numerous technological improvements based on these 16 genome assemblies. In the flagship study, the VGP demonstrates the feasibility of setting and achieving high-quality reference genome quality metrics using their state-of-the-art automated approach of combining long-read and long-range chromosome scaffolding approaches with novel algorithms that put the pieces of the genome assembly puzzle together.