A Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart Diseases.

ABSTRACT:

Rationale

Thousands of mutations across >50 genes have been implicated in inherited cardiomyopathies. However, options for sequencing this rapidly evolving gene set are limited because many sequencing services and off-the-shelf kits suffer from slow turnaround, inefficient capture of genomic DNA, and high cost. Furthermore, customization of these assays to cover emerging targets that suit individual needs is often expensive and time consuming.

Objective

We sought to develop a custom high throughput, clinical-grade next-generation sequencing assay for detecting cardiac disease gene mutations with improved accuracy, flexibility, turnaround, and cost.

Methods and results

We used double-stranded probes (complementary long padlock probes), an inexpensive and customizable c

SUBMITTER: Wilson KD 

PROVIDER: S-EPMC4568077 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature