Whole-exome Sequencing Reanalysis at 12 Months Boosts Diagnosis and is Cost-Effective when Applied Early in Mendelian Disorders.
Lisa J Ewans,Deborah Schofield,Rupendra Shrestha,Ying Zhu,Velimir Gayevskiy,Kevin Ying,Corrina Walsh,Eric Lee,Edwin P Kirk,Alison Colley,Carolyn Ellaway,Anne Turner,David Mowat,Lisa Worgan,Mary-Louise Freckmann,Michelle Lipke,Rani Sachdev,David Miller,Michael Field,Marcel E Dinger,Michael F Buckley,Mark J Cowley,Tony Roscioli Genetics in Medicine（2018）
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cost-effectiveness,diagnosis,exome,genomics,Mendelian
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