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Breed Relevance Ratings (BRR) are a way to assess the relevance of a specific test for a specific breed, based on the currently best-known information on the research and development of a test - but genetic tests are not limited to pedigree breeds. Genetic tests are used for a variety of reasons on all dogs, and understanding the relevance is important for any purpose-bred dog or breeding program, as well as individual dogs. BRR’s are estimated for all dogs, and where the research is not available for a specific breed or type, we have processes to provide transparent information about test rel
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HGTD This week: Calling all breed experts!
Aimee Llewellyn-Zaidi posted a blog entry in HGTD & Genetic Testing
Calling All Breed Experts! HGTD’s phenes database and breed relevancy ratings (BRR) are an important source of information for anyone engaged in dog health and breeding, through the harmonizing of scientific data from a wide-variety of experts, research publications, veterinary and genetics researcher contributions, and in-house expertise. Just as important, though, are the contributions from breed experts. Breed experts are individuals with significant knowledge of their breed or breeds. Breed experts are most often breed or kennel club members who work on health and breeding strate-
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HGTD Update: 12 May 2020 Since the last blog, we’ve had additional expert review of many Breed Relevance Ratings (BRRs) – particular in commonly tested eye conditions, and ataxias. As we are growing our expert out-reach for input into BRRs, we are pleased to note that there is consensus between experts self-reviewing their tests as well as peer-reviewing each other. This adds reassurance to us that the current BRR estimation of combining what we can learn from research publications, phene discoverer’s expert opinions, and informal peer-review between geneticists, is working. So far, we ha
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The continued review of breed-specific tests for assigning relevance ratings, and ongoing discussions with genetic experts has led to a refinement of the breed relevance ratings (please see: BRR) . To better accommodate the spectrum of genetic test validation, we’ve added a new orange BRR. The orange BRR indicates where all current available evidence has been reviewed, but the relevance is inconclusive. It could be that a mutation is detectable in a specific breed, but that there is no evidence that this correlates with clinical development of the disease/phene. It could also be that the
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The Harmonization of Genetic Testing for Dogs (HGTD) project work includes harmonizing genetic test information across many different boundaries. That can be as simple as adding consistency to nomenclature from around the world, or as challenging as cataloging test information and research from dozens of different international sources. With so much variation in how tests are developed, and how they are released to the public, a big part of my work is ensuring that phene names we publish on HGTD are consistent, accurate, and representative of whatever genetic test a person is seeking out.