Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.

ABSTRACT:

Background

We aimed to determine the mutation yield and clinical applicability of "molecular autopsy" following sudden arrhythmic death syndrome (SADS) by validating and utilizing low-cost high-throughput technologies: Fluidigm Access Array PCR-enrichment with Illumina HiSeq 2000 next generation sequencing (NGS).

Methods

We validated and optimized the NGS platform with a subset of 46 patients by comparison with Sanger sequencing of coding exons of major arrhythmia risk-genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, RYR2). A combined large multi-ethnic international SADS cohort was sequenced utilizing the NGS platform to determine overall molecular yield; rare variants identified by NGS were subsequently reconfirmed by Sanger sequencing.

Results

The NGS platform demonstrate

SUBMITTER: Raju H 

PROVIDER: S-EPMC6651896 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature