Evaluating the Performance of a Clinical Genome Sequencing Program for Diagnosis of Rare Genetic Disease, Seen Through the Lens of Craniosynostosis
Zerin Hyder,Eduardo Calpena,Yang Pei,Rebecca S. Tooze,Helen Brittain,Stephen R. F. Twigg,Deirdre Cilliers,Jenny E. V. Morton,Emma McCann,Astrid Weber,Louise C. Wilson,Andrew G. L. Douglas,Ruth McGowan,Anna Need,Andrew Bond,Ana Lisa Taylor Tavares,Ellen R. A. Thomas,John C. Ambrose, Susan L. Hill,Zandra C. Deans,Freya Boardman-Pretty,Mark Caulfield,Richard H. Scott,Andrew O. M. Wilkie Genetics in Medicine（2021）
关键词
Pathogenicity Prediction,Craniosynostosis,Clinical Genomics
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