Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data
Alejandro Ferrer, Patrick Duffy,Rory J. Olson,Michael A. Meiners,Laura Schultz-Rogers,Erica L. Macke,Stephanie Safgren,Joel A. Morales-Rosado,Margot A. Cousin,Gavin R. Oliver,David Rider, Megan Williams,Pavel N. Pichurin,David R. Deyle,Eva Morava,Ralitza H. Gavrilova,Radhika Dhamija, Klass J. Wierenga,Brendan C. Lanpher,Dusica Babovic-Vuksanovic,Charu Kaiwar,Carolyn R. Vitek,Tammy M. McAllister,Myra J. Wick,Lisa A. Schimmenti,Konstantinos N. Lazaridis,Filippo Pinto e Vairo,Eric W. Klee Human Genetics（2024）
摘要
Most rare disease patients (75–50
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