title: The importance of dynamic re-analysis in diagnostic whole exome sequencing.
authors.affiliation: Division of Brain Sciences, Department of Medicine, Imperial College London, London, UK.
authors.forename: Anna C
authors.identifier: 0000-0003-3955-8207
authors.initials: AC
authors.lastname: Need
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA.
authors.forename: Vandana
authors.initials: V
authors.lastname: Shashi
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA.
authors.forename: Kelly
authors.initials: K
authors.lastname: Schoch
authors.affiliation: Institute for Genomic Medicine, Columbia University, New York, New York, USA.|Department of Medicine, The University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, Victoria, Australia.
authors.forename: Slavé
authors.initials: S
authors.lastname: Petrovski
authors.affiliation: Institute for Genomic Medicine, Columbia University, New York, New York, USA.
authors.forename: David B
authors.initials: DB
authors.lastname: Goldstein
mesh_terms: D059472:Exome; D056726:Genetic Association Studies / Q000379:methods / Q000592:standards; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods / Q000592:standards; D014644:Genetic Variation; D006801:Humans; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D000073359:Exome Sequencing / Q000379:methods / Q000592:standards
keywords: Diagnosis; bioinformatics; coverage; exome; yield