ArticlePloS one2015
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
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- The c.1243T>C mutation in theClinical case reports · 2023Article
- Opportunities and challenges of 5G network technology toward precision medicine.Clinical and translational science · 2023Review
- Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.Human genome variation · 2023Article
- Article
- Comorbidities associated with genetic abnormalities in children with intellectual disability.Scientific reports · 2021Article
- Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia.Bioscience reports · 2020Article
- Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.Molecular genetics & genomic medicine · 2020Article
- Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of theFrontiers in genetics · 2020Article
- Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.BMC medical genetics · 2019Article
- Targeted genotyping by sequencing: a new way to genome profile the cat.Animal genetics · 2019Article
- Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report.BMC medical genetics · 2019Article
- A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.Molecular genetics & genomic medicine · 2019Article
- Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform.Medicine · 2019Observational
- Targeted Sequencing and RNA Assay Reveal a NoncanonicalFrontiers in genetics · 2019Article
- Compound heterozygousInternational journal of clinical and experimental pathology · 2019Article
- Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.Scientific reports · 2018Article
- The first case of NSHL by direct impression onIranian journal of basic medical sciences · 2018Article
- Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing.PloS one · 2017Article
- Correction: Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.PloS one · 2016Article
Corrections and comments
- Erratum issued
- Erratum issued
Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTargeted 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
findingsWe 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 could be detected stably in a batch and different batches respectively. In addition, the method could detect various types of mutations. Some disease-causing mutations were detected in 69 clinical cases, including 62 SNVs, 14 insertions and deletions (Indels), 1 copy number variant (CNV), 1 microdeletion and 2 microduplications of chromosomes, of which 35 mutations were novel. Mutations were confirmed by Sanger sequencing or real-time polymerase chain reaction (PCR). CONCLUSIONS/SIGNIFICANCE: Results of the evaluation showed that targeted NGS enabled to detect disease-causing mutations with high accuracy, stability, speed and throughput. Thus, the technology can be used for the clinical diagnosis of 561 Mendelian diseases.
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