ArticleGenetics in medicine : official journal of the American College of Medical Genetics2011
Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00807482 (Diagnostic and Clinical Characterization of Patients With Unusual Genetic Disorders of the Airways), which is not on this map. Cited by 28 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Diagnostic and Clinical Characterization of Patients With Unusual Genetic Disorders of the Airways
Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it, 61 citations in OpenAlex.
- Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views.BMC medical genomics · 2016Pooled it
- Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review.Pediatric pulmonology · 2016Guideline
- Discovery of novel alleles in Kartagener's syndrome.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- Cell type mapping reveals tissue niches and interactions in subcortical multiple sclerosis lesions.Nature neuroscience · 2024Article
- Gene dosage of independent dynein arm motor preassembly factors influences cilia assembly in Chlamydomonas reinhardtii.PLoS genetics · 2024Article
- Oviducal gland transcriptomics ofPeerJ · 2022Article
- Genetic Analysis of Korean Adult Patients with Nontuberculous Mycobacteria Suspected of Primary Ciliary Dyskinesia Using Whole Exome Sequencing.Yonsei medical journal · 2021Article
- Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis.Annals of the American Thoracic Society · 2018Observational
- Next-Generation Sequencing and the Return of Results.Cold Spring Harbor perspectives in medicine · 2016Review
- Plasma metabolomic profiles enhance precision medicine for volunteers of normal health.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.G3 (Bethesda, Md.) · 2015Article
- Mutation analysis in patients with total sperm immotility.Journal of assisted reproduction and genetics · 2015Article
- Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing.Genomics data · 2015Article
- Primary Ciliary Dyskinesia: An Update on New Diagnostic Modalities and Review of the Literature.Pediatric allergy, immunology, and pulmonology · 2014Review
- Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model.BMC genetics · 2014Article
- Validation of a next-generation sequencing assay for clinical molecular oncology.The Journal of molecular diagnostics : JMD · 2014Article
- Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia.Annals of the American Thoracic Society · 2013Article
- Sperm-associated antigen-17 gene is essential for motile cilia function and neonatal survival.American journal of respiratory cell and molecular biology · 2013Article
- Molecular genetic testing and the future of clinical genomics.Nature reviews. Genetics · 2013Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
purposeAdvances in genetic sequencing technology have the potential to enhance testing for genes associated with genetically heterogeneous clinical syndromes, such as primary ciliary dyskinesia. The objective of this study was to investigate the performance characteristics of exon-capture technology coupled with massively parallel sequencing for clinical diagnostic evaluation.
methodsWe performed a pilot study of four individuals with a variety of previously identified primary ciliary dyskinesia mutations. We designed a custom array (NimbleGen) to capture 2089 exons from 79 genes associated with primary ciliary dyskinesia or ciliary function and sequenced the enriched material using the GS FLX Titanium (Roche 454) platform. Bioinformatics analysis was performed in a blinded fashion in an attempt to detect the previously identified mutations and validate the process.
resultsThree of three substitution mutations and one of three small insertion/deletion mutations were readily identified using this methodology. One small insertion mutation was clearly observed after adjusting the bioinformatics handling of previously described SNPs. This process failed to detect two known mutations: one single-nucleotide insertion and a whole-exon deletion. Additional retrospective bioinformatics analysis revealed strong sequence-based evidence for the insertion but failed to detect the whole-exon deletion. Numerous other variants were also detected, which may represent potential genetic modifiers of the primary ciliary dyskinesia phenotype.
conclusionsWe conclude that massively parallel sequencing has considerable potential for both research and clinical diagnostics, but further development is required before widespread adoption in a clinical setting.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.