ArticleGenomics2020
Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings.
Article in Genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 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.
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.
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Who cites it
11 citing papers in PubMed, 18 citations in OpenAlex.
- Mosaic deletions detected by genome sequencing in two families.Journal of human genetics · 2025Article
- Human embryonic genetic mosaicism and its effects on development and disease.Nature reviews. Genetics · 2024Review
- HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.Nucleic acids research · 2024Article
- Multi-exonClinical case reports · 2022Article
- Review
- Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.Molecular genetics & genomic medicine · 2022Article
- MONTAGE: a new tool for high-throughput detection of mosaic copy number variation.BMC genomics · 2021Article
- Systems Cytogenomics: Are We Ready Yet?Current genomics · 2021Article
- Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing.Frontiers in molecular biosciences · 2021Article
- Clinical genomics and contextualizing genome variation in the diagnostic laboratory.Expert review of molecular diagnostics · 2020Review
- Applications of advanced technologies for detecting genomic structural variation.Mutation research. Reviews in mutation researchReview
Corrections and comments
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Authors and funding
14 authors at 2 institutions in 1 country.
Funding
Abstract
To further assess the scale and level of parental somatic mosaicism, we queried the CMA database at Baylor Genetics. We selected 50 unrelated families where clinically relevant apparent de novo CNV-deletions were found in the affected probands. Parental blood samples screening using deletion junction-specific PCR revealed four parents with somatic mosaicism. Droplet digital PCR (ddPCR), qPCR, and amplicon-based next-generation sequencing (NGS) were applied to validate these findings. Using ddPCR levels of mosaicism ranged from undetectable to 18.5%. Amplicon-based NGS and qPCR for the father with undetectable mosaicism was able to detect mosaicism at 0.39%. In one mother, ddPCR analysis revealed 15.6%, 10.6%, 8.2%, and undetectable levels of mosaicism in her blood, buccal cells, saliva, and urine samples, respectively. Our data suggest that more sensitive and precise methods, e.g. CNV junction-specific LR-PCR, ddPCR, or qPCR may allow for a more refined assessment of the potential disease recurrence risk for an identified variant.
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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.