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Next Generation Sequencing || Frequently Asked Questions About the Clinical Utility of Next-Generation Sequencing in Molecular Diagnosis of Human Genetic Diseases

✍ Scribed by Wong, Lee-Jun C.


Book ID
120405475
Publisher
Springer New York
Year
2013
Weight
122 KB
Category
Article
ISBN
1461470013

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Next-generation sequencing (NGS) is transitioning from being a research tool to being used in routine genetic diagnostics, where a major challenge is distinguishing which of many sequence variants in an individual are truly pathogenic. We describe some limitations of in silico analyses of NGS data t