Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.

ABSTRACT:

Background

Targeted next-generation sequencing (NGS) is a cost-effective approach for rapid and accurate detection of genetic mutations in patients with suspected genetic disorders, which can facilitate effective diagnosis.

Methodology/principal findings

We designed a capture array to mainly capture all the coding sequence (CDS) of 2,181 genes associated with 561 Mendelian diseases and conducted NGS to detect mutations. The accuracy of NGS was 99.95%, which was obtained by comparing the genotypes of selected loci between our method and SNP Array in four samples from normal human adults. We also tested the stability of the method using a sample from normal human adults. The results showed that an average of 97.79% and 96.72% of single-nucleotide variants (SNVs) in the sample

SUBMITTER: Liu Y 

PROVIDER: S-EPMC4537117 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature