February 1, 2016Journal of Cardiovascular Translational ResearchOpen Access

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

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Population

Inherited cardiac condition (ICC) genes (n=174 genes) tested on 60 samples (n=12 MiSeq, n=48 NextSeq)

Comparison

Targeted gene capture panel for ICCs vs Whole exome sequencing, deep WES, and whole…

Design

Other

Authors

CPChee Jian PuaNational Heart Centre Singapore JBJaydutt BhalshankarAllen Institute for Brain Science KMKui MiaoNanjing University of Aeronautics and Astronautics

Discussion

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Implication

Facilitates efficient ICC genetic testing; leaves open clinical validation of diagnostic yield and utility.

Structured PICO

Population

Inherited cardiac condition (ICC) genes (n=174 genes) tested on 60 samples (n=12 MiSeq, n=48 NextSeq)

Intervention

Targeted gene capture panel for ICCs

Comparator

Whole exome sequencing (WES; ~80x), deep WES (~500x), and whole genome sequencing (WGS; ~70x)

Outcome

Coverage of the target region at ≥20x read depth, sensitivity, and precision for single nucleotide variants and indelssurrogate

A newly developed targeted gene capture panel for inherited cardiac conditions provides superior coverage and accuracy compared to whole exome and whole genome sequencing.

Cite This Study

Pua et al. (2016) studied this question.

synapsesocial.com/papers/6a7a6f6a77336a1bae02cd43 https://doi.org/10.1007/s12265-016-9673-5

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Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

Discussion

Member takes

Implication

Structured PICO

Cite This Study

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