title: Application of variant-calling algorithms for Mendelian disorders: lessons from whole-exome sequencing in Charcot-Marie-Tooth disease.
authors.affiliation: Department of Neurology, School of Medicine, Sungkyunkwan University, Seoul, South Korea.
authors.forename: Y B
authors.initials: YB
authors.lastname: Hong
authors.forename: J
authors.initials: J
authors.lastname: Jung
authors.forename: S-C
authors.initials: SC
authors.lastname: Jung
authors.forename: K W
authors.initials: KW
authors.lastname: Chung
authors.forename: B-O
authors.initials: BO
authors.lastname: Choi
mesh_terms: D000465:Algorithms; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D059472:Exome / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA / Q000379:methods*