Frequently asked questions about the clinical utility of next-generation sequencing in molecular diagnosis of human genetic diseases

Next Generation Sequencing: Translation to Clinical Diagnostics

Volumn , Issue , 2013, Pages 287-299

  Chin, Ephrem L H ^a   Zhang, Victor Wei ^a   Wang, Jing ^a   Milone, Margherita ^b   Pacheco, Susan ^c   Craigen, William J ^a   Wong, Lee Jun C ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b MAYO CLINIC   (United States)

^c UNIVERSITY OF TEXAS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84961384870     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-1-4614-7001-4_16     Document Type: Chapter

References (8)

1. Wang J et al (2013) Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. Genet Med15(2):106-14. doi:10.1038/gim.2012.104. Epub 2012 Aug 16
2. Cui H et al (2013) Comprehensive next generation sequence analyses of the entire mitochondrial genome reveals new insights into the molecular diagnosis of mitochondrial DNA disorders.Genet Med
3. Zhang W, Cui H, Wong LJ (2012) Comprehensive 1-step molecular analyses of mitochondrial genome by massively parallel sequencing. Clin Chem 58:1322-1331
4. Asan et al (2011) Comprehensive comparison of three commercial human whole-exome capture platforms. Genome Biol 12(9):R95. doi: 10.1186/gb-2011-12-9-r95
5. McDonald KK et al (2012) Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered. PLoS One 7(11):e48864
6. Parla JS et al (2011) A comparative analysis of exome capture. Genome Biol 12(9):R97
7. Sule G et al (2013) Next generation sequencing for disorders of low and high bone mineral density. Osteoporos Int. 2013 Feb 27. [Epub ahead of print]
8. Koopman WJ, Willems PH, Smeitink JA (2012) Monogenic mitochondrial disorders. N Engl J Med 366(12):1132-1141