ISB News

ISB Releases Kaviar, World’s Largest Public Catalog of Human Genomic Variation

3 Bullets: Kaviar is ISB’s comprehensive catalog of human genomic variation Kaviar combines 31 data sources for a total of 151 million single nucleotide variants (SNVs), covering 5% of all the positions in the human genome A researcher studying possible disease-causing variants can use Kaviar to answer the question, “Have these variants been observed before, and if so, how often?” By Terry Farrah A typical pair of human genomes are…

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What’s the Secret to ‘Extreme Longevity’?

3 Bullets: ISB researchers and their collaborators studied a group of supercentenarians (110 years or older) to explore the genetics of ‘extreme longevity.’ The group performed whole-genome sequencing on 17 supercentenarians in order to look for any rare protein-altering variants associated with extreme longevity. While the researchers did not find a single cause for extreme longevity within this sample size, the genomic data is now available for future studies. By…

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Analyzing Family Genomics Reveals New Culprit in Rare Disease

3 Bullets: Adams-Oliver syndrome (AOS) is a rare congenital disease characterized by scalp lesions and limb defects. Additional vascular abnormalities and heart defects can lead to early death in some patients. By analyzing twelve families affected with the disease, we identified causal mutations in a new disease gene, NOTCH1, in five families. NOTCH1 is likely to be the major cause of AOS. NOTCH1 codes for a transcription factor that governs…

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ISB at Eastside Science Cafe

Personal Genome Sequencing Discussion at Eastside Science Cafe. Jared Roach, Ph.D., M.D., Institute for Systems Biology, will be presenting at Eastside Science Cafe: Monday, 11 February 2013 – 7:00pm Location: Wilde Rover, Kirkland Click here for Map The first personal genomes were sequenced only five years ago and cost millions of dollars. Personal genome sequencing is now a thousand times cheaper, and many people are considering sequencing their own genomes…

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The Wellbody Academy and ISB’s Family Genomics Group

What You Saw in the News: The Pacific Science Center just opened a new permanent exhibit called “Professor Wellbody’s Academy of Health & Wellness.” Here’s a description of the exhibit from the PSC web site: “Seven-thousand square feet of hands-on inventions, gadgets, activities and experiences will present health as a life-long process of balancing exercise, diet, proper rest and hygiene. These tools and resources for managing health and well-being will…

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