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Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution

Zornitza Stark, Rebecca E. Foulger, Eleanor Williams, Bryony A. Thompson, Chirag Patel, Sebastian Lunke, Catherine Snow, Ivone Leong, Arina Puzriakova, Louise C. Daugherty, S. E. A. Leigh, C. R. Boustred, Olivia Niblock, Antonio Rueda-Martin, О. М. Герасименко, K. Savage, W. A. Bellamy, Victor San Kho Lin, Roman Valls, Lavinia Gordon, Helen Brittain, Ellen Thomas, Ana Lisa Taylor Tavares, Meriel McEntagart, Susan M. White, Tiong Yang Tan, Alison Yeung, Lilian Downie, Ivan Macciocca, Elena Savva, Crystle Lee, Ain Roesley, Paul De Fazio, Jane Deller, Zandra C. Deans, Sue Hill, Mark J. Caulfield, Kathryn N. North, Richard H. Scott, Augusto Rendon, Oliver Hofmann, Ellen M. McDonagh

2021The American Journal of Human Genetics81 citationsDOIOpen Access PDF

Topics & Concepts

ScalingComputational biologyData curationComputer scienceResolution (logic)Data scienceBiologyArtificial intelligenceMathematicsGeometryGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesGenomics and Phylogenetic Studies
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