ArticleThe Journal of molecular diagnostics : JMD2009
Development of genomic reference materials for cystic fibrosis genetic testing.
Article in The Journal of molecular diagnostics : JMD, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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.
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Who cites it
19 citing papers in PubMed.
- Generation of quartet reference materials for preimplantation genetic testing for structural rearrangements.BMC genomics · 2026Article
- New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing: The Genetic Testing Reference Material (GeT-RM) Program PGx Search Tool and GeT-RM Consolidated PGx and HLA Table.The Journal of molecular diagnostics : JMD · 2025Article
- Differentiation between nonobstructive azoospermia and obstructive azoospermia: then and now.Asian journal of andrology · 2025Review
- Reference Materials for Improving Reliability of Multiomics Profiling.Phenomics (Cham, Switzerland) · 2024Review
- Cost-effectiveness of the CFTR gene-sequencing test for asymptomatic carriers in the Colombian populationBiomedica : revista del Instituto Nacional de Salud · 2020Article
- Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing.International journal of neonatal screening · 2020Article
- MRI findings of obstructive azoospermia: lesions in and out of pelvic cavity.Abdominal radiology (New York) · 2020Review
- Reference standards for next-generation sequencing.Nature reviews. Genetics · 2017Review
- Development and Characterization of Reference Materials for Genetic Testing: Focus on Public Partnerships.Annals of laboratory medicine · 2016Review
- Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- Genetic evaluation of male infertility.Translational andrology and urology · 2014Review
- Review of Azoospermia.Spermatogenesis · 2014Review
- Bridging the gap: moving predictive and prognostic assays from research to clinical use.Clinical cancer research : an official journal of the American Association for Cancer Research · 2012Article
- CFTR mutation analysis and haplotype associations in CF patients.Molecular genetics and metabolism · 2012Article
- Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.The Journal of molecular diagnostics : JMD · 2011Article
- Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.The Journal of molecular diagnostics : JMD · 2009Article
- Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.The Journal of molecular diagnostics : JMD · 2009Article
- Cystic fibrosis testing comes of age.The Journal of molecular diagnostics : JMD · 2009Article
- Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis.Journal of inborn errors of metabolism and screeningArticle
Corrections and comments
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The number of different laboratories that perform genetic testing for cystic fibrosis is increasing. However, there are a limited number of quality control and other reference materials available, none of which cover all of the alleles included in commercially available reagents or platforms. The alleles in many publicly available cell lines that could serve as reference materials have neither been confirmed nor characterized. The Centers for Disease Control and Prevention-based Genetic Testing Reference Material Coordination Program, in collaboration with members of the genetic testing community as well as Coriell Cell Repositories, have characterized an extended panel of publicly available genomic DNA samples that could serve as reference materials for cystic fibrosis testing. Six cell lines [containing the following mutations: E60X (c.178G>T), 444delA (c.312delA), G178R (c.532G>C), 1812-1G>A (c.1680-1G>A), P574H (c.1721C>A), Y1092X (c.3277C>A), and M1101K (c.3302T>A)] were selected from those existing at Coriell, and seven [containing the following mutations: R75X (c.223C>T), R347H (c.1040G>A), 3876delA (c.3744delA), S549R (c.1646A>C), S549N (c.1647G>A), 3905insT (c.3773_3774insT), and I507V (c.1519A>G)] were created. The alleles in these materials were confirmed by testing in six different volunteer laboratories. These genomic DNA reference materials will be useful for quality assurance, proficiency testing, test development, and research and should help to assure the accuracy of cystic fibrosis genetic testing in the future. The reference materials described in this study are all currently available from Coriell Cell Repositories.
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