Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data

作者：Alejandro Tiana Ferrer, Patrick E. Duffy, Rory J. Olson, Michael A. Meiners, Laura Schultz‐Rogers, Erica L. Macke, Stephanie L. Safgren, Joel A. Morales‐Rosado, Margot A. Cousin, Gavin R. Oliver, David A. Rider, Megan Williams, Pavel N. Pichurin, David R. Deyle, Éva Morava, Ralitza H. Gavrilova, Radhika Dhamija, Klass J. Wierenga, Brendan C. Lanpher, Dusica Babovic‐Vuksanovic, Charu Kaiwar, Carolyn R. Rohrer Vitek, Tammy M. McAllister, Myra Wick, Lisa A. Schimmenti, Konstantinos N. Lazaridis, Filippo Pinto e Vairo, Eric W. Klee · 发表于：Human Genetics · 年份：2024 · DOI：10.1007/s00439-024-02664-3 · 被引用次数：2 · 研究领域：Genomics and Rare Diseases、Genomic variations and chromosomal abnormalities、Cancer Genomics and Diagnostics