ArticleScientific reports2018
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
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- Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- Clinical and neurophysiological characterization of p.Gly59Ser mutation in DCTN1: a study in a Thai family and a brief review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Review
- Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling.Scientific reports · 2025Article
- Opportunities and challenges of 5G network technology toward precision medicine.Clinical and translational science · 2023Review
- miR-34a-FOXP1 Loop in Ovarian Cancer.ACS omega · 2023Article
- Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability.Urolithiasis · 2023Article
- Structural insight into the intraflagellar transport complex IFT-A and its assembly in the anterograde IFT train.Nature communications · 2023Article
- Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family with multiple anomalies.Frontiers in genetics · 2023Article
- Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital.Clinics (Sao Paulo, Brazil) · 2022Article
- A molecular-beacon-based asymmetric PCR assay for detecting polymorphisms related to folate metabolism.Journal of clinical laboratory analysis · 2020Article
- Identification of a likely pathogenic structural variation in theNPJ genomic medicine · 2020Article
- A Heterozygous Novel Mutation inFrontiers in pediatrics · 2020Article
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Authors and funding
18 authors.
Funding
Abstract
With the development of next generation sequencing, more and more common inherited diseases have been reported. However, accurate and convenient molecular diagnosis cannot be achieved easily because of the enormous size of disease causing mutations. In this study, we introduced a new single-step method for the genetic analysis of patients and carriers in real clinical settings. All kinds of disease causing mutations can be detected at the same time in patients with Mendelian diseases or carriers. First, we evaluated this technology using YH cell line DNA and 9 samples with known mutations. Accuracy and stability of 99.80% and 99.58% were achieved respectively. Then, a total of 303 patients were tested using our targeted NGS approaches, 50.17% of which were found to have deleterious mutations and molecular confirmation of the clinical diagnosis. We identified 219 disease causing mutations, 43.84% (96/219) of which has never been reported before. Additionally, we developed a new deleteriousness prediction method for nonsynonymous SNVs, and an automating annotation and diagnosis system for Mendelian diseases, thus greatly assisting and enhancing Mendelian diseases diagnosis and helping to make a precise diagnosis for patients with Mendelian diseases.
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