ArticleThe Journal of molecular diagnostics : JMD2016
Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis.
Article in The Journal of molecular diagnostics : JMD, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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.
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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
18 citing papers in PubMed, 33 citations in OpenAlex.
- Machine learning-powered single-molecule cancer diagnosis using DNA origami tags.Science advances · 2026Article
- CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA.Genetics in medicine open · 2025Article
- Utilizing MiSeq Sequencing to Detect Circulating microRNAs in Plasma for Improved Lung Cancer Diagnosis.International journal of molecular sciences · 2023Article
- Case-control study evaluating risk factors for SARS-CoV-2 outbreak amongst healthcare personnel at a tertiary care center.American journal of infection control · 2021Article
- Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.International journal of neonatal screening · 2021Article
- Racially equitable diagnosis of cystic fibrosis using next-generation DNA sequencing: a case report.BMC pediatrics · 2021Article
- Little to Give, Much to Gain-What Can You Do With a Dried Blood Spot?Current environmental health reports · 2020Review
- Validation of novel forensic DNA markers using multiplex microhaplotype sequencing.Forensic science international. Genetics · 2020Article
- Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing.International journal of neonatal screening · 2020Article
- The Role of ExtendedInternational journal of neonatal screening · 2020Review
- Novel bioinformatics quality control metric for next-generation sequencing experiments in the clinical context.Nucleic acids research · 2019Article
- Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy.International journal of neonatal screening · 2019Article
- Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Genomic sequencing in cystic fibrosis newborn screening: what works best, two-tier predefined CFTR mutation panels or second-tier CFTR panel followed by third-tier sequencing?Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach.Journal of human genetics · 2017Article
- Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.Scientific reports · 2017Article
- Cystic fibrosis newborn screening programs: implications of the CFTR variant spectrum in nonwhite patients.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis.Journal of inborn errors of metabolism and screeningArticle
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
Newborn screening for cystic fibrosis enables early detection and management of this debilitating genetic disease. Implementing comprehensive CFTR analysis using Sanger sequencing as a component of confirmatory testing of all screen-positive newborns has remained impractical due to relatively lengthy turnaround times and high cost. Here, we describe CFseq, a highly sensitive, specific, rapid (<3 days), and cost-effective assay for comprehensive CFTR gene analysis from dried blood spots, the common newborn screening specimen. The unique design of CFseq integrates optimized dried blood spot sample processing, a novel multiplex amplification method from as little as 1 ng of genomic DNA, and multiplex next-generation sequencing of 96 samples in a single run to detect all relevant CFTR mutation types. Sequence data analysis utilizes publicly available software supplemented by an expert-curated compendium of >2000 CFTR variants. Validation studies across 190 dried blood spots demonstrated 100% sensitivity and a positive predictive value of 100% for single-nucleotide variants and insertions and deletions and complete concordance across the polymorphic poly-TG and consecutive poly-T tracts. Additionally, we accurately detected both a known exon 2,3 deletion and a previously undetected exon 22,23 deletion. CFseq is thus able to replace all existing CFTR molecular assays with a single robust, definitive assay at significant cost and time savings and could be adapted to high-throughput screening of other inherited conditions.
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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.