- Clinical Applications of Chromosomal Microarray Analysis
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Seo EJ
- KMID: 2184475
- J Genet Med.
- 2010 Dec;7(2):111-118.
Chromosomal microarray analysis (CMA) enables the genome-wide detection of submicroscopic chromosomal imbalances with greater precision and accuracy. In most other countries, CMA is now a commonly used clinical diagnostic test,... -
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- AnsNGS: An Annotation System to Sequence Variations of Next Generation Sequencing Data for Disease-Related Phenotypes
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Na YJ, Cho Y, Kim JH
- KMID: 2166663
- Healthc Inform Res.
- 2013 Mar;19(1):50-55.
- doi: 10.4258/hir.2013.19.1.50
OBJECTIVES: Next-generation sequencing (NGS) data in the identification of disease-causing genes provides a promising opportunity in the diagnosis of disease. Beyond the previous efforts for NGS data alignment, variant detection,... -
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