ReviewMolecular genetics and genomics : MGG2016
Unrevealed mosaicism in the next-generation sequencing era.
Review in Molecular genetics and genomics : MGG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 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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Who cites it
61 citing papers in PubMed.
- Clinical application of preimplantation genetic testing for pathogenic microdeletion and microduplication based on an effective and convenient sequencing platform.Journal of assisted reproduction and genetics · 2026Article
- Maternal Mosaicism Challenges in Non-Invasive Prenatal Diagnosis.Prenatal diagnosis · 2025Article
- Unveiling Maternal Germline Mosaicism in X-Linked Alport Syndrome by Advanced Genetic Testing.The American journal of case reports · 2025Article
- Gastric-type endocervical adenocarcinoma in situ as the presenting feature in a mosaic STK11 pathogenic variant carrier with a Peutz-Jeghers syndrome child.Familial cancer · 2025Article
- Germline mosaicism in TCF20-associated neurodevelopmental disorders: a case study and literature review.Journal of human genetics · 2025Review
- Genomic Mosaicism of the Brain: Origin, Impact, and Utility.Neuroscience bulletin · 2024Review
- Article
- Evolution of Minimally Invasive and Non-Invasive Preimplantation Genetic Testing: An Overview.Journal of clinical medicine · 2024Review
- Detection ofBiomedicines · 2024Article
- Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations.Journal of medical genetics · 2023Article
- Suspected Germline TP53 Variants and Clonal Hematopoiesis of Indeterminate Potential: Lessons Learned From a Molecular Tumor Board.The oncologist · 2023Article
- Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms.Orphanet journal of rare diseases · 2023Article
- Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome 1.American journal of medical genetics. Part A · 2022Article
- PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.NPJ genomic medicine · 2022Article
- VHL mosaicism: the added value of multi-tissue analysis.NPJ genomic medicine · 2022Article
- Collision of germline POLE and PMS2 variants in a young patient treated with immune checkpoint inhibitors.NPJ precision oncology · 2022Article
- Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies.Frontiers in neurology · 2022Review
- Review
- Article
- Somatic variation as an incidental finding in the pediatric next-generation sequencing era.Cold Spring Harbor molecular case studies · 2021Article
1 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mosaicism refers to the presence in an individual of normal and abnormal cells that are genotypically distinct and are derived from a single zygote. The incidence of mosaicism events in the human body is underestimated as the genotypes in the mosaic ratio, especially in the low-grade mosaicism, stay unrevealed. This review summarizes various research outcomes and diagnostic questions in relation to different types of mosaicism. The impact of both tested biological material and applied method on the mosaicism detection rate is especially highlighted. As next-generation sequencing technologies constitute a promising methodological solution in mosaicism detection in the coming years, revisions in current diagnostic protocols are necessary to increase the detection rate of the unrevealed mosaicism events. Since mosaicism identification is a complex process, numerous examples of multistep mosaicism investigations are presented and discussed.
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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.