Application of variant-calling algorithms for Mendelian disorders: lessons from whole-exome sequencing in Charcot-Marie-Tooth disease.

Authors :: Hong YB
Jung J
Jung SC
Chung KW
Choi BO
Source :: Clinical genetics [Clin Genet] 2014 Sep; Vol. 86 (3), pp. 298-9. Date of Electronic Publication: 2013 Oct 17.
Publication Year :: 2014

Subjects :: Humans
Sensitivity and Specificity
Algorithms
Charcot-Marie-Tooth Disease genetics
Exome genetics
Genetic Diseases, Inborn genetics
Polymorphism, Single Nucleotide genetics
Sequence Analysis, DNA methods

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