ArticleInternational journal of molecular sciences2019
Identification of Structural Variation from NGS-Based Non-Invasive Prenatal Testing.
Article in International journal of molecular sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 22 citations in OpenAlex.
- Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant women.Annals of medicine · 2026Article
- Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations.BMC genomics · 2024Article
- Evaluation of the clinical effects of non-invasive prenatal screening for diseases associated with aneuploidy and copy number variation.Molecular genetics & genomic medicine · 2023Article
- Evaluation and limitations of different approaches among COVID-19 fatal cases using whole-exome sequencing data.BMC genomics · 2023Article
- Automated prediction of the clinical impact of structural copy number variations.Scientific reports · 2022Article
- Repurposing non-invasive prenatal testing data: Population study of single nucleotide variants associated with colorectal cancer and Lynch syndrome.Oncology letters · 2021Article
- Privacy-preserving storage of sequenced genomic data.BMC genomics · 2021Article
- Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report.European journal of medical research · 2021Article
- Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination.Genes · 2021Article
- Copy Number Variant Detection with Low-Coverage Whole-Genome Sequencing Represents a Viable Alternative to the Conventional Array-CGH.Diagnostics (Basel, Switzerland) · 2021Article
- Technical and Methodological Aspects of Cell-Free Nucleic Acids Analyzes.International journal of molecular sciences · 2020Review
- Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test.Acta bio-medica : Atenei Parmensis · 2020Article
- Validation of Copy Number Variants Detection from Pregnant Plasma Using Low-Pass Whole-Genome Sequencing in Noninvasive Prenatal Testing-Like Settings.Diagnostics (Basel, Switzerland) · 2020Article
- Efficiency of noninvasive prenatal testing for the detection of fetal microdeletions and microduplications in autosomal chromosomes.Molecular genetics & genomic medicine · 2020Article
- Cell-Free Nucleic Acids.International journal of molecular sciences · 2019Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Copy number variants (CNVs) are an important type of human genome variation, which play a significant role in evolution contribute to population diversity and human genetic diseases. In recent years, next generation sequencing has become a valuable tool for clinical diagnostics and to provide sensitive and accurate approaches for detecting CNVs. In our previous work, we described a non-invasive prenatal test (NIPT) based on low-coverage massively parallel whole-genome sequencing of total plasma DNA for detection of CNV aberrations ≥600 kbp. We reanalyzed NIPT genomic data from 5018 patients to evaluate CNV aberrations in the Slovak population. Our analysis of autosomal chromosomes identified 225 maternal CNVs (47 deletions; 178 duplications) ranging from 600 to 7820 kbp. According to the ClinVar database, 137 CNVs (60.89%) were fully overlapping with previously annotated variants, 66 CNVs (29.33%) were in partial overlap, and 22 CNVs (9.78%) did not overlap with any previously described variant. Identified variants were further classified with the AnnotSV method. In summary, we identified 129 likely benign variants, 13 variants of uncertain significance, and 83 likely pathogenic variants. In this study, we use NIPT as a valuable source of population specific data. Our results suggest the utility of genomic data from commercial CNV analysis test as background for a population study.
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Registered trials
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