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Published in 2021 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2021.08.010
Abstract: Rare diseases affect millions of people worldwide, and discovering their genetic causes is challenging. More than half of the individuals analyzed by the Undiagnosed Diseases Network (UDN) remain undiagnosed. The central hypothesis of this work…
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Keywords:
diseases network;
gene pairs;
undiagnosed diseases;
gene ... See more keywords
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Published in 2018 at "Clinical and Translational Science"
DOI: 10.1111/cts.12512
Abstract: In 2008, the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP)1,2 was established to provide answers for patients with conditions that had long eluded diagnosis. Based on the success of the UDP, the NIH…
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Keywords:
diseases network;
network;
implementing single;
single institutional ... See more keywords
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Published in 2022 at "Annual review of medicine"
DOI: 10.1146/annurev-med-042120-014904
Abstract: Genetic testing has undergone a revolution in the last decade, particularly with the advent of next-generation sequencing and its associated reductions in costs and increases in efficiencies. The Undiagnosed Diseases Network (UDN) has been a…
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Keywords:
genomic testing;
network taught;
undiagnosed diseases;
diseases network ... See more keywords
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Published in 2018 at "BMC Health Services Research"
DOI: 10.1186/s12913-018-3458-2
Abstract: BackgroundThe majority of undiagnosed diseases manifest with objective findings that warrant further investigation. The Undiagnosed Diseases Network (UDN) receives applications from patients whose symptoms and signs have been intractable to diagnosis; however, many UDN applicants…
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Keywords:
diseases network;
subjective symptoms;
accepted applications;
undiagnosed diseases ... See more keywords
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Published in 2023 at "Frontiers in Public Health"
DOI: 10.3389/fpubh.2023.1079601
Abstract: Introduction Rare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions of people globally. Early and accurate diagnosis is essential to support clinical care but remains challenging in many countries, especially the…
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Keywords:
health;
network international;
undiagnosed diseases;
diseases network ... See more keywords