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

Saved in:
Bibliographic Details
Published inClinical genetics Vol. 86; no. 3; pp. 298 - 299
Main Authors Hong, Y.B., Jung, J., Jung, S.-C., Chung, K.W., Choi, B.-O.
Format Journal Article
LanguageEnglish
Published Oxford, UK Blackwell Publishing Ltd 01.09.2014
Subjects
Algorithms
Charcot-Marie-Tooth Disease - genetics
Exome - genetics
Genetic Diseases, Inborn - genetics
Humans
Polymorphism, Single Nucleotide - genetics
Sensitivity and Specificity
Sequence Analysis, DNA - methods
Online AccessGet full text

Cover

More Information
Bibliography:ark:/67375/WNG-M9P7J8T1-F
istex:C2DA77937580CEC277EA2D692E48D966B4261183
Table S1. CMT genes identified by whole-exome sequencing.
ArticleID:CGE12281
Korean Health Technology R&D Project
Ministry of Health and Welfare, Republic of Korea - No. A120182
SourceType-Other Sources-1
ObjectType-Article-1
content type line 63
ObjectType-Correspondence-2
ObjectType-Feature-3
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.12281