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Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations

โœ Scribed by Ephrem LH Chin, Cristina da Silva, Madhuri Hegde


Book ID
120676378
Publisher
BioMed Central
Year
2013
Tongue
English
Weight
487 KB
Volume
14
Category
Article
ISSN
1471-2156

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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