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April 8, 2013Human MutationOpen Access

Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics

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Why the study?

Does targeted next-generation sequencing provide equal sensitivity and specificity to Sanger sequencing for clinical diagnostics in individuals with cardiomyopathies?

Population

84 individuals with cardiomyopathies

Comparison

Targeted next-generation sequencing using a… vs Sanger sequencing (SS)

Design

Other

Authors

BSBirgit Sikkema‐RaddatzLJLennart JohanssonEBEddy N. de Boer

Discussion

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Overview

May support targeted NGS as stand-alone cardiomyopathy test; leaves open larger prospective validation before replacing Sanger.

Structured PICO

Does targeted next-generation sequencing provide equal sensitivity and specificity to Sanger sequencing for clinical diagnostics in individuals with cardiomyopathies?

P
Population
84 individuals with cardiomyopathies
I
Intervention
Targeted next-generation sequencing (NGS) using a targeted enrichment kit for 48 genes associated with hereditary cardiomyopathies (151 bp paired-end reads on an Illumina MiSeq sequencer)
C
Comparator
Sanger sequencing (SS)
O
Outcome
Sensitivity and specificity of targeted NGS compared to SS (including coverage, variant confirmation, and reproducibility)surrogate

Targeted next-generation sequencing of a disease-specific subset of genes provides diagnostic quality equal to Sanger sequencing, allowing its use as a reliable stand-alone diagnostic test for hereditary cardiomyopathies.

Cite This Study

Sikkema‐Raddatz et al. (2013) studied this question.

synapsesocial.com/papers/6a1d22b01e7099f69104f008https://doi.org/10.1002/humu.22332
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