ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
35 citing papers in PubMed, 2 syntheses or guidelines pooled it, 81 citations in OpenAlex.
- Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID.Pediatrics · 2024Guideline
- Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.Ontario health technology assessment series · 2023Pooled it
- A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.International journal of molecular sciences · 2026Article
- Spectrum and Classification of CFTR and ADGRG2 Variants in Chinese Patients With Isolated CAVD: A Large Cohort Study and Risk Assessment of CFTR Variant Carriage in Couples.Human mutation · 2026Article
- Methodological Assessment of High-Throughput Sequencing Platforms: Illumina vs. MGI in Clinical-GradeInternational journal of molecular sciences · 2025Article
- Beyond Carrier Status: CFTR Heterozygosity as an Overlooked Clinical Risk Factor for Pancreatitis.Clinical genetics · 2025Article
- Noncoding DNA Variants in Primary Ciliary Dyskinesia: Another Piece of the Diagnostic Puzzle.American journal of respiratory and critical care medicine · 2025Article
- Clinical and genetic characteristics of diseases caused by CFTR gene mutations in 15 Chinese children: a retrospective analysis.BMC pediatrics · 2025Article
- Article
- Diseases Common in Persons With Cystic Fibrosis Among CFTR Heterozygotes.JAMA internal medicine · 2025Article
- Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance.Clinical genetics · 2025Article
- Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study.BMJ open · 2025Article
- Article
- CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA.Genetics in medicine open · 2025Article
- Accurate and Automated Genotyping of theInternational journal of molecular sciences · 2024Article
- Article
- Article
- Racial inequities and rareJournal of clinical & translational endocrinology · 2024Article
- Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.Genome medicine · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 6 institutions in 1 country.
Funding
Abstract
Pathogenic variants in the CFTR gene are causative of classic cystic fibrosis (CF) as well as some nonclassic CF phenotypes. In 2001, CF became the first target of pan-ethnic universal carrier screening by molecular methods. The American College of Medical Genetics and Genomics (ACMG) recommended a core panel of 23 disease-causing variants as the minimal set to be included in pan-ethnic carrier screening of individuals with no family history of the disease, and these variants were usually assessed using targeted methods. The original recommendation also left open the option for laboratories to offer expanded CFTR variant panels; however, at the time, expanded CFTR variant panels were met with some controversy on the basis of the available technologies and the limited phenotypic knowledge of rare variants. Both of those aspects have now evolved, prompting this update of the ACMG technical standards for CFTR variant testing.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.