ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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37 citing papers in PubMed, 66 citations in OpenAlex.
- Unraveling the genetic causes in large pedigrees with gout by whole‑exome sequencing.International journal of molecular medicine · 2020Trial
- Patterns of X-Linked Retinitis Pigmentosa Genetic Testing in England and Implications for Service Provision.Ophthalmology science · 2026Article
- Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance ofAnnals of laboratory medicine · 2026Article
- Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities.BMC medical genomics · 2025Article
- Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa.Molecular genetics & genomic medicine · 2025Article
- Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.European journal of human genetics : EJHG · 2025Article
- Clinical sequencing of the retinitis pigmentosa geneMolecular vision · 2024Article
- Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells.Molecular diagnosis & therapy · 2023Article
- Identification of circular RNAs hosted by theRNA biology · 2023Article
- An adaptive method of defining negative mutation status for multi-sample comparison using next-generation sequencing.BMC medical genomics · 2021Article
- Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy.Orphanet journal of rare diseases · 2021Article
- Transplantation of GMP-grade human iPSC-derived retinal pigment epithelial cells in rodent model: the first pre-clinical study for safety and efficacy in China.Annals of translational medicine · 2021Article
- Genotype-Phenotype Analysis ofFrontiers in genetics · 2021Article
- Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.BMC ophthalmology · 2020Article
- De Novo Assembly-Based Analysis ofGenes · 2020Article
- Ablation of Mature miR-183 Leads to Retinal Dysfunction in Mice.Investigative ophthalmology & visual science · 2020Article
- Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.Molecular genetics & genomic medicine · 2020Article
- Identification of Novel Compound Heterozygous Mutations in theFrontiers in neuroscience · 2020Article
- Whole-Exome Sequencing Reveals a Rare Missense Variant inBioMed research international · 2020Article
- Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeRetinitis pigmentosa (RP) is a major cause of heritable human blindness with extreme genetic heterogeneity. A large number of causative genes have been defined by next-generation sequencing (NGS). However, due to technical limitations, determining the existence of uncovered or low-depth regions is a fundamental challenge in analyzing NGS data. Therefore, undetected mutations may exist in genomic regions less effectively covered by NGS.
methodsTo address this problem, we tested a complementary approach for identifying previously undetected mutations in NGS data sets. The strategy consisted of coverage-based analysis and additional target screening of low-depth regions. Fifty RP patients were analyzed, and none of the mutations found had previously been identified by NGS.
resultsCoverage-based analysis indicated that, because of a highly repetitive sequence, the RPGR open reading frame (ORF)15 was located in an uncovered or low-depth region. Through additional screening of ORF15, we identified pathogenic mutations in 14% (7/50) of patients, including four novel mutations first described herein.
conclusionIn brief, we support the need for a complementary approach to identify mutations undetected by NGS, underscoring the power and significance of combining coverage-based analysis with additional target screening of low-depth regions in improving diagnosis of genetic diseases. In addition to its usefulness in RP, this approach is likely applicable to other Mendelian diseases.
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