ArticleDNA research : an international journal for rapid publication of reports on genes and genomes2019
Development of coupling controlled polymerizations by adapter-ligation in mate-pair sequencing for detection of various genomic variants in one single assay.
Article in DNA research : an international journal for rapid publication of reports on genes and genomes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 26 citations in OpenAlex.
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- A common cause of non-obstructive azoospermia: biallelic MEI1 variants and implications for infertility diagnostics.Journal of assisted reproduction and genetics · 2026Article
- TEDD 2.0: an advanced temporal gene expression database enabled by in-silico functional analyses for developmental mechanism investigation.Science China. Life sciences · 2026Article
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- Underrecognized triploidy and genome-wide uniparental disomy in human blastocysts revealed by a concurrent preimplantation genetic testing approach.Human reproduction open · 2026Article
- Clinical validation of artificial intelligence-assisted karyotyping on peripheral blood in a cytogenetic diagnostic laboratory.Human genetics · 2025Review
- The accuracy and real resolution of karyotyping technique in detecting chromosomal aberrations identified by molecular genetic methods.Molecular genetics and genomics : MGG · 2025Article
- Genomic Detection and Delineation of Chromoanasynthesis by Mate-Pair Sequencing.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Evaluation of genetic risk of apparently balanced chromosomal rearrangement carriers by breakpoint characterization.Journal of assisted reproduction and genetics · 2024Article
- Identification of cryptic balanced translocations in couples with unexplained recurrent pregnancy loss based upon embryonic PGT-A results.Journal of assisted reproduction and genetics · 2024Article
- Low-Pass Genome Sequencing-Based Detection of Paternity: Validation in Clinical Cytogenetics.Genes · 2023Article
- High-resolution single-molecule long-fragment rRNA gene amplicon sequencing of bacterial and eukaryotic microbial communities.Cell reports methods · 2023Article
- Mate-pair genome sequencing reveals structural variants for idiopathic male infertility.Human genetics · 2023Article
- Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders.Frontiers in genetics · 2022Article
- Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Deciphering the complexity of simple chromosomal insertions by genome sequencing.Human genetics · 2021Article
- Low-pass genome sequencing: a validated method in clinical cytogenetics.Human genetics · 2020Article
- Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis.Frontiers in genetics · 2019Article
Corrections and comments
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Authors and funding
30 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The diversity of disease presentations warrants one single assay for detection and delineation of various genomic disorders. Herein, we describe a gel-free and biotin-capture-free mate-pair method through coupling Controlled Polymerizations by Adapter-Ligation (CP-AL). We first demonstrated the feasibility and ease-of-use in monitoring DNA nick translation and primer extension by limiting the nucleotide input. By coupling these two controlled polymerizations by a reported non-conventional adapter-ligation reaction 3' branch ligation, we evidenced that CP-AL significantly increased DNA circularization efficiency (by 4-fold) and was applicable for different sequencing methods but at a faction of current cost. Its advantages were further demonstrated by fully elimination of small-insert-contaminated (by 39.3-fold) with a ∼50% increment of physical coverage, and producing uniform genome/exome coverage and the lowest chimeric rate. It achieved single-nucleotide variants detection with sensitivity and specificity up to 97.3 and 99.7%, respectively, compared with data from small-insert libraries. In addition, this method can provide a comprehensive delineation of structural rearrangements, evidenced by a potential diagnosis in a patient with oligo-atheno-terato-spermia. Moreover, it enables accurate mutation identification by integration of genomic variants from different aberration types. Overall, it provides a potential single-integrated solution for detecting various genomic variants, facilitating a genetic diagnosis in human diseases.
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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.