ArticleScientific reports2019
A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Integrated Single-Strand DNA Capture and Haplotype-Guided Variant Calling Platform for Non-Invasive Prenatal Testing of Monogenic Disorders.Diagnostics (Basel, Switzerland) · 2026Article
- Important Limitations on the Conclusions of "Discrepant Results on Two Different Single Gene Noninvasive Prenatal Tests for Cystic Fibrosis: A Case Report".AJP reports · 2026Article
- Discrepant Results on Two Different Single Gene Non-invasive Prenatal Tests for Cystic Fibrosis: A Case Report.AJP reports · 2026Article
- Validation of a liquid biopsy assay with increased sensitivity for clinical comprehensive genomic profiling.The journal of liquid biopsy · 2025Article
- Analysis of genotypic distribution and rare variants of patients with α/β-thalassemia screened in one hospital in Beijing, China.Human genomics · 2025Article
- Molecular counting enables accurate and precise quantification of methylated ctDNA for tumor-naive cancer therapy response monitoring.Scientific reports · 2025Article
- The Art (and Science) of Individualized Selection of Non-Invasive Prenatal Screening (NIPS).International journal of women's health · 2025Article
- Noninvasive Prenatal Testing Using Circulating DNA and RNA: Advances, Challenges, and Possibilities.Annual review of biomedical data science · 2023Review
- Validation of a non-invasive prenatal test for fetal RhD, C, c, E, K and FyScientific reports · 2023Article
- Non-invasive prenatal diagnosis (NIPD): current and emerging technologies.Extracellular vesicles and circulating nucleic acids · 2023Review
- Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders.Clinical science (London, England : 1979) · 2022Article
- OBGYN providers' lack of knowledge and management of genetic risks due to advanced paternal age underscore the need for updated practice guidance.Journal of community genetics · 2022Article
- Validation of single-gene noninvasive prenatal testing for sickle cell disease.American journal of hematology · 2022Article
- Noninvasive prenatal exome sequencing diagnostic utility limited by sequencing depth and fetal fraction.Prenatal diagnosis · 2022Article
- Massively parallel enrichment of low-frequency alleles enables duplex sequencing at low depth.Nature biomedical engineering · 2022Article
- Five novel globin gene mutations identified in five Chinese families by next-generation sequencing.Molecular genetics & genomic medicine · 2021Article
- Review
- Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping.Genome medicine · 2021Article
- Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends.Computational and structural biotechnology journal · 2020Review
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
Next-generation DNA sequencing is currently limited by an inability to accurately count the number of input DNA molecules. Molecular counting is particularly needed when accurate quantification is required for diagnostic purposes, such as in single gene non-invasive prenatal testing (sgNIPT) and liquid biopsy. We developed Quantitative Counting Template (QCT) molecular counting to reconstruct the number of input DNA molecules using sequencing data. We then used QCT molecular counting to develop sgNIPTs of sickle cell disease, cystic fibrosis, spinal muscular atrophy, alpha-thalassemia, and beta-thalassemia. The analytical sensitivity and specificity of sgNIPT was >98% and >99%, respectively. Validation of sgNIPTs was further performed with maternal blood samples collected during pregnancy, and sgNIPTs were 100% concordant with newborn follow-up.
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