Article
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.
Orphanet journal of rare diseases - 7 May 2021
Baldridge Dustin, Wangler Michael F, Bowman Angela N, Yamamoto Shinya, Schedl Tim, Pak Stephen C, Postlethwait John H, Shin Jimann, Solnica-Krezel Lilianna, Bellen Hugo J, Westerfield Monte
Abstract excerpt
Decreased sequencing costs have led to an explosion of genetic and genomic data. These data have revealed thousands of candidate human disease variants. Establishing which variants cause phenotypes and diseases, however, has remained challenging. Significant progress has been made, including advances by the National Institutes of Health (NIH)-funded Undiagnosed Diseases Network (UDN). However, 6000-13,000...
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