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Hannes Lohi - One of the best experts on this subject based on the ideXlab platform.

  • Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders
    2016
    Co-Authors: Jonas Donner, Maria Kaukonen, Heidi Anderson, Fredrik Möller, Kaisa Kyöstilä, Satu Sankari, Marjo Hytönen, Urs Giger, Hannes Lohi
    Abstract:

    BackgroundThe growing number of identified genetic disease risk variants across dog breeds challenges the current state-of-the-art of population screening, veterinary molecular diagnostics, and genetic counseling. Multiplex screening of such variants is now technologically feasible, but its practical potential as a supportive tool for canine breeding, disease diagnostics, Pet Care, and genetics research is still unexplored.ResultsTo demonstrate the utility of comprehensive genetic panel screening, we tested nearly 7000 dogs representing around 230 breeds for 93 disease-associated variants using a custom-designed genotyping microarray (the MyDogDNA® panel test). In addition to known breed disease-associated mutations, we discovered 15 risk variants in a total of 34 breeds in which their presence was previously undocumented. We followed up on seven of these genetic findings to demonstrate their clinical relevance. We report additional breeds harboring variants causing factor VII deficiency, hyperuricosuria, lens luxation, von Willebrand’s disease, multifocal retinopathy, multidrug resistance, and rod-cone dysplasia. Moreover, we provide plausible molecular explanations for chondrodysplasia in the Chinook, cerebellar ataxia in the Norrbottenspitz, and familiar nephropathy in the Welsh Springer Spaniel.ConclusionsThese practical examples illustrate how genetic panel screening represents a comprehensive, efficient and powerful diagnostic and research discovery tool with a range of applications in veterinary Care, disease research, and breeding. We conclude that several known disease alleles are more widespread across different breeds than previously recognized. However, Careful follow up studies of any unexpected discoveries are essential to establish genotype-phenotype correlations, as is readiness to provide genetic counseling on their implications for the dog and its breed.

  • Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders.
    Public Library of Science (PLoS), 2026
    Co-Authors: Jonas Donner, Maria Kaukonen, Heidi Anderson, Fredrik Möller, Kaisa Kyöstilä, Satu Sankari, Marjo Hytönen, Urs Giger, Hannes Lohi
    Abstract:

    The growing number of identified genetic disease risk variants across dog breeds challenges the current state-of-the-art of population screening, veterinary molecular diagnostics, and genetic counseling. Multiplex screening of such variants is now technologically feasible, but its practical potential as a supportive tool for canine breeding, disease diagnostics, Pet Care, and genetics research is still unexplored.To demonstrate the utility of comprehensive genetic panel screening, we tested nearly 7000 dogs representing around 230 breeds for 93 disease-associated variants using a custom-designed genotyping microarray (the MyDogDNA® panel test). In addition to known breed disease-associated mutations, we discovered 15 risk variants in a total of 34 breeds in which their presence was previously undocumented. We followed up on seven of these genetic findings to demonstrate their clinical relevance. We report additional breeds harboring variants causing factor VII deficiency, hyperuricosuria, lens luxation, von Willebrand's disease, multifocal retinopathy, multidrug resistance, and rod-cone dysplasia. Moreover, we provide plausible molecular explanations for chondrodysplasia in the Chinook, cerebellar ataxia in the Norrbottenspitz, and familiar nephropathy in the Welsh Springer Spaniel.These practical examples illustrate how genetic panel screening represents a comprehensive, efficient and powerful diagnostic and research discovery tool with a range of applications in veterinary Care, disease research, and breeding. We conclude that several known disease alleles are more widespread across different breeds than previously recognized. However, Careful follow up studies of any unexpected discoveries are essential to establish genotype-phenotype correlations, as is readiness to provide genetic counseling on their implications for the dog and its breed

Jonas Donner - One of the best experts on this subject based on the ideXlab platform.

  • Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders
    2016
    Co-Authors: Jonas Donner, Maria Kaukonen, Heidi Anderson, Fredrik Möller, Kaisa Kyöstilä, Satu Sankari, Marjo Hytönen, Urs Giger, Hannes Lohi
    Abstract:

    BackgroundThe growing number of identified genetic disease risk variants across dog breeds challenges the current state-of-the-art of population screening, veterinary molecular diagnostics, and genetic counseling. Multiplex screening of such variants is now technologically feasible, but its practical potential as a supportive tool for canine breeding, disease diagnostics, Pet Care, and genetics research is still unexplored.ResultsTo demonstrate the utility of comprehensive genetic panel screening, we tested nearly 7000 dogs representing around 230 breeds for 93 disease-associated variants using a custom-designed genotyping microarray (the MyDogDNA® panel test). In addition to known breed disease-associated mutations, we discovered 15 risk variants in a total of 34 breeds in which their presence was previously undocumented. We followed up on seven of these genetic findings to demonstrate their clinical relevance. We report additional breeds harboring variants causing factor VII deficiency, hyperuricosuria, lens luxation, von Willebrand’s disease, multifocal retinopathy, multidrug resistance, and rod-cone dysplasia. Moreover, we provide plausible molecular explanations for chondrodysplasia in the Chinook, cerebellar ataxia in the Norrbottenspitz, and familiar nephropathy in the Welsh Springer Spaniel.ConclusionsThese practical examples illustrate how genetic panel screening represents a comprehensive, efficient and powerful diagnostic and research discovery tool with a range of applications in veterinary Care, disease research, and breeding. We conclude that several known disease alleles are more widespread across different breeds than previously recognized. However, Careful follow up studies of any unexpected discoveries are essential to establish genotype-phenotype correlations, as is readiness to provide genetic counseling on their implications for the dog and its breed.

  • Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders.
    Public Library of Science (PLoS), 2026
    Co-Authors: Jonas Donner, Maria Kaukonen, Heidi Anderson, Fredrik Möller, Kaisa Kyöstilä, Satu Sankari, Marjo Hytönen, Urs Giger, Hannes Lohi
    Abstract:

    The growing number of identified genetic disease risk variants across dog breeds challenges the current state-of-the-art of population screening, veterinary molecular diagnostics, and genetic counseling. Multiplex screening of such variants is now technologically feasible, but its practical potential as a supportive tool for canine breeding, disease diagnostics, Pet Care, and genetics research is still unexplored.To demonstrate the utility of comprehensive genetic panel screening, we tested nearly 7000 dogs representing around 230 breeds for 93 disease-associated variants using a custom-designed genotyping microarray (the MyDogDNA® panel test). In addition to known breed disease-associated mutations, we discovered 15 risk variants in a total of 34 breeds in which their presence was previously undocumented. We followed up on seven of these genetic findings to demonstrate their clinical relevance. We report additional breeds harboring variants causing factor VII deficiency, hyperuricosuria, lens luxation, von Willebrand's disease, multifocal retinopathy, multidrug resistance, and rod-cone dysplasia. Moreover, we provide plausible molecular explanations for chondrodysplasia in the Chinook, cerebellar ataxia in the Norrbottenspitz, and familiar nephropathy in the Welsh Springer Spaniel.These practical examples illustrate how genetic panel screening represents a comprehensive, efficient and powerful diagnostic and research discovery tool with a range of applications in veterinary Care, disease research, and breeding. We conclude that several known disease alleles are more widespread across different breeds than previously recognized. However, Careful follow up studies of any unexpected discoveries are essential to establish genotype-phenotype correlations, as is readiness to provide genetic counseling on their implications for the dog and its breed

Hsinyi Weng - One of the best experts on this subject based on the ideXlab platform.

  • survey to investigate Pet ownership and attitudes to Pet Care in metropolitan chicago dog and or cat owners
    Preventive Veterinary Medicine, 2014
    Co-Authors: Amber Freiwald, Annette Litster, Hsinyi Weng
    Abstract:

    The aims of this descriptive cross-sectional study were to investigate dog and cat acquisition and attitudes toward Pet Care among residents of the Chicago area (zip codes 60600-60660); to compare data obtained from owners of shelter-acquired Pets with those of residents who acquired their Pets from other sources; to compare data from dog owners with cat owners; and to compare Pet health practices among the respondents of different zip code income groups. In-person surveys administered at five Pet store locations collected data from 529 respondents, representing 582 dogs and 402 cats owned or continuously Cared for in the past 3 years. Median household income data for represented zip codes was also obtained. Shelters were the most common source of cats (p<0.01) and were the second most common source of dogs. Cats were more likely to have been acquired as strays, while dogs were more likely to have been acquired from friends/family/neighbors, Pet stores, breeders or rescue organizations and to be kept as outdoor-only Pets (p<0.01). More cats were kept per household than dogs (dogs mean=1.32/household; cats mean=1.78/household; p<0.01). Pet owners were most commonly 'very likely' (5 on a 1-5/5 Likert scale) to administer all hypothetical treatments discussed, although cat owners were less likely to spend time training their Pet (p=0.05). Cat owners were less likely to have taken their Pet to a veterinarian for vaccinations or annual physical exams (p<0.01). Shelter-acquired cats were significantly more likely to have been taken by their owners to the veterinarian for annual exams (p=0.05) than cats obtained as strays. Owners of shelter-acquired Pets were at least as willing as other respondents to administer hypothetical treatments and pay ≥$1000 for veterinary treatment. Respondents from site #3 lived in zip codes that had relatively lower median household incomes (p<0.01) and were less likely to spend ≥$1000 on their Pets than those at the four other sites (p<0.01). Over 90% of Pet owners from all acquisition categories expressed very high levels of attachment (≥8-10/10 on a Likert scale), except for owners of cats acquired as strays (84.9%) or from the 'other' category (75.0%). Survey respondents commonly acquired their Pets from shelters and those who did were at least as willing to pay for and provide veterinary Care as respondents who owned Pets acquired from other sources. The data collected provides a snapshot of the attitudes of survey respondents in the Chicago area toward Pet acquisition and Care.

Simon R Cherry - One of the best experts on this subject based on the ideXlab platform.

  • observations regarding scatter fraction and nec measurements for small animal Pet
    IEEE Transactions on Nuclear Science, 2006
    Co-Authors: Yongfeng Yang, Simon R Cherry
    Abstract:

    The goal of this study was to evaluate the magnitude and origin of scattered radiation in a small-animal Pet scanner and to assess the impact of these findings on noise equivalent count rate (NECR) measurements, a metric often used to optimize scanner acquisition parameters and to compare one scanner with another. The scatter fraction (SF) was measured for line sources in air and line sources placed within a mouse-sized phantom (25 mm /spl phi//spl times/70 mm) and a rat-sized phantom (60 mm /spl phi//spl times/150 mm) on the microPet II small-animal Pet scanner. Measurements were performed for lower energy thresholds ranging from 150-450 keV and a fixed upper energy threshold of 750 keV. Four different methods were compared for estimating the SF. Significant scatter fractions were measured with just the line source in the field of view, with the spatial distribution of these events consistent with scatter from the gantry and room environment. For mouse imaging, this component dominates over object scatter, and the measured SF is strongly method dependent. The environmental SF rapidly increases as the lower energy threshold decreases and can be more than 30% for an open energy window of 150-750 keV. The object SF originating from the mouse phantom is about 3-4% and does not change significantly as the lower energy threshold increases. The object SF for the rat phantom ranges from 10 to 35% for different energy windows and increases as the lower energy threshold decreases. Because the measured SF is highly dependent on the method, and there is as yet no agreed upon standard for animal Pet, Care must be exercised when comparing NECR for small objects between different scanners. Differences may be methodological rather than reflecting any relevant difference in the performance of the scanner. Furthermore, these results have implications for scatter correction methods when the majority of the detected scatter does not arise from the object itself.

  • observations regarding scatter fraction and nec measurements for small animal Pet
    Nuclear Science Symposium and Medical Imaging Conference, 2004
    Co-Authors: Yongfeng Yang, Simon R Cherry
    Abstract:

    The scatter fraction (SF) was measured for a line source, a mouse-sized phantom (25 mm /spl phi//spl times/70 mm) and a rat-sized phantom (60 mm /spl phi//spl times/150 mm) on the microPet II small animal Pet scanner. Measurements were performed for four lower energy thresholds of 150, 250, 350 and 450 keV and a fixed upper energy threshold of 750 keV. Four different methods were used to obtain the SF. Significant scatter fractions were measured with just the line source in the field of view, with the spatial distribution of these events consistent with scatter from the gantry and environment. For mouse imaging, this component dominates over object scatter, and the measured SF is strongly method dependent. The environmental SF rapidly increases as the lower energy threshold decreases and can be more than 20% for an open energy window of 150-750 keV. The object SF originating from the mouse phantom is about 4% and does not change significantly as the lower energy threshold changes. The object SF for the rat phantom ranges from 20-40% for different energy windows and increases as the lower energy threshold decreases. Because the measured SF is highly dependent on the method, and there is as yet no agreed upon standard for animal Pet, Care must be exercised when comparing NEC rates for small objects between different scanners. Differences may be methodological rather than reflecting the performance of the scanner. Furthermore, this data has implications for scatter correction methods when the majority of the detected scatter does not arise from the object itself.

Lohi Hannes - One of the best experts on this subject based on the ideXlab platform.

  • Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders
    'Public Library of Science (PLoS)', 2016
    Co-Authors: Donner Jonas, Kaukonen Maria, Anderson Heidi, Moller Fredrik, Kyostila Kaisa, Sankari Satu, Hytonen Marjo, Giger Urs, Lohi Hannes
    Abstract:

    Background The growing number of identified genetic disease risk variants across dog breeds challenges the current state-of-the-art of population screening, veterinary molecular diagnostics, and genetic counseling. Multiplex screening of such variants is now technologically feasible, but its practical potential as a supportive tool for canine breeding, disease diagnostics, Pet Care, and genetics research is still unexplored. Results To demonstrate the utility of comprehensive genetic panel screening, we tested nearly 7000 dogs representing around 230 breeds for 93 disease-associated variants using a custom-designed genotyping microarray (the MyDogDNA1panel test). In addition to known breed disease-associated mutations, we discovered 15 risk variants in a total of 34 breeds in which their presence was previously undocumented. We followed up on seven of these genetic findings to demonstrate their clinical relevance. We report additional breeds harboring variants causing factor VII deficiency, hyperuricosuria, lens luxation, von Willebrand's disease, multifocal retinopathy, multidrug resistance, and rod-cone dysplasia. Moreover, we provide plausible molecular explanations for chondrodysplasia in the Chinook, cerebellar ataxia in the Norrbottenspitz, and familiar nephropathy in the Welsh Springer Spaniel. Conclusions These practical examples illustrate how genetic panel screening represents a comprehensive, efficient and powerful diagnostic and research discovery tool with a range of applications in veterinary Care, disease research, and breeding. We conclude that several known disease alleles are more widespread across different breeds than previously recognized. However, Careful follow up studies of any unexpected discoveries are essential to establish genotype-phenotype correlations, as is readiness to provide genetic counseling on their implications for the dog and its breed.Peer reviewe