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Article

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

BMC genetics - 19 Feb 2013

Chin Ephrem L H, da Silva Cristina, Hegde Madhuri

Abstract excerpt

BACKGROUND: Detecting mutations in disease genes by full gene sequence analysis is common in clinical diagnostic laboratories. Sanger dideoxy terminator sequencing allows for rapid development and implementation of sequencing assays in the clinical laboratory, but it has limited throughput, and due to cost constraints, only allows analysis of one or at most a few genes in a patient. Next-generation sequencing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23418865
DOI: 10.1186/1471-2156-14-6
PMCID: PMC3599218

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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