What is the clinical evidence from this study?

Study design: Observational. Population: Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). Intervention: Targeted next-generation sequencing vs. Whole genome coverage. Primary outcome: Genomic region enrichment and mutation detection.

What question did this study set out to answer?

To develop and validate a high-throughput, array-based subgenomic enrichment and next-generation sequencing workflow for the comprehensive genetic diagnosis of inherited cardiomyopathies.

January 20, 2011View

Targeted Next-Generation Sequencing for the Molecular Genetic Diagnostics of Cardiomyopathies

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Key result

Targeted next-generation sequencing enriched the genomic region of interest by a mean factor of 2169 compared with whole genome coverage, detecting disease-causing mutations in 6 patients.

Why the study?

Does targeted next-generation sequencing allow for fast and comprehensive genetic characterization of patients with inherited cardiomyopathies?

Population

Patients with hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM)

Design

Other

Authors

BMBenjamin MederInterventional Cardiology JHJan HaasHeart Failure & Transplant AKAndreas KellerUniversité Claude Bernard Lyon 1

Discussion

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Implication

May offer cost-efficient genetic screening in hereditary cardiomyopathies; hypothesis-generating and should not yet change practice.

Key Points

To develop and validate a high-throughput, array-based subgenomic enrichment and next-generation sequencing workflow for the comprehensive genetic diagnosis of inherited cardiomyopathies.
Established an array-based subgenomic enrichment strategy paired with targeted next-generation sequencing to analyze known disease genes.
Evaluated the diagnostic performance of the platform in patients clinically diagnosed with hypertrophic cardiomyopathy (HCM) or dilated cardiomyopathy (DCM).
Achieved target genomic enrichment by a mean factor of 2169 relative to whole-genome coverage, providing sufficient sequence depth to assess disease pathogenesis in a single sequencing run.
Identified disease-causing mutations in 6 patients, consisting of 2 microdeletions and 4 point mutations.
Detected multiple novel nonsynonymous variants predicted to be deleterious, representing potential primary causative mutations or disease modifiers.

Study Design

Type

Observational

Structured PICO

Does targeted next-generation sequencing allow for fast and comprehensive genetic characterization of patients with inherited cardiomyopathies?

Population

Patients with hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) evaluated using targeted next-generation sequencing.

Exposure

Array-based subgenomic enrichment followed by next-generation sequencing

Outcome

Detection of disease-causing mutations and novel nonsynonymous variantssurrogate

Targeted next-generation sequencing provides a fast, comprehensive, and cost-efficient method for genetic screening in patients with hereditary DCM or HCM.

Cite This Study

Meder et al. (2011) conducted an observational in Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). Targeted next-generation sequencing vs. Whole genome coverage was evaluated on Genomic region enrichment and mutation detection. Targeted next-generation sequencing enriched the genomic region of interest by a mean factor of 2169 compared with whole genome coverage, detecting disease-causing mutations in 6 patients.

synapsesocial.com/papers/6a84726525efb1e71e83f941 https://doi.org/10.1161/circgenetics.110.958322

Topics

Hypertrophic cardiomyopathy

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Targeted Next-Generation Sequencing for the Molecular Genetic Diagnostics of Cardiomyopathies

Discussion

Member takes

Implication

Key Points

Study Design

Structured PICO

Cite This Study

Topics

Targeted Next-Generation Sequencing for the Molecular Genetic Diagnostics of Cardiomyopathies

Discussion

Member takes

Implication

Key Points

Study Design

Structured PICO

Cite This Study

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