ArticleGenome research2017
Detection of structural mosaicism from targeted and whole-genome sequencing data.
Article in Genome research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed.
- Decoding structural birth defects through genomic landscapes: Innovative frameworks for diagnosis (Review).International journal of molecular medicine · 2026Review
- Review
- A neuropathology case report of a woman with Down syndrome who remained cognitively stable: Implications for resilience to neuropathology.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.American journal of human genetics · 2024Article
- Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors.Neuro-oncology · 2024Article
- Human embryonic genetic mosaicism and its effects on development and disease.Nature reviews. Genetics · 2024Review
- The Clinical Spectrum of Mosaic Genetic Disease.Genes · 2024Review
- Genome-wide detection of somatic mosaicism at short tandem repeats.Bioinformatics (Oxford, England) · 2024Article
- The Impact of Chromosomal Mosaicisms on Prenatal Diagnosis and Genetic Counseling-A Narrative Review.Journal of personalized medicine · 2024Review
- Review
- Detection and characterization of copy-number variants from exome sequencing in the DDD study.Genetics in medicine open · 2024Article
- Genome-wide detection of somatic mosaicism at short tandem repeats.bioRxiv : the preprint server for biology · 2023Article
- Transitioning single-cell genomics into the clinic.Nature reviews. Genetics · 2023Review
- Comprehensive de novo mutation discovery with HiFi long-read sequencing.Genome medicine · 2023Article
- Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.European journal of human genetics : EJHG · 2023Article
- Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability.European journal of human genetics : EJHG · 2023Article
- Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study.Genetics in medicine open · 2023Article
- Review
- Reliability of Cell-Free DNA and Targeted NGS in Predicting Chromosomal Abnormalities of Patients With Myeloid Neoplasms.Frontiers in oncology · 2022Article
- Genomic frontiers in congenital heart disease.Nature reviews. Cardiology · 2022Review
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Authors and funding
13 authors.
Funding
Abstract
Structural mosaic abnormalities are large post-zygotic mutations present in a subset of cells and have been implicated in developmental disorders and cancer. Such mutations have been conventionally assessed in clinical diagnostics using cytogenetic or microarray testing. Modern disease studies rely heavily on exome sequencing, yet an adequate method for the detection of structural mosaicism using targeted sequencing data is lacking. Here, we present a method, called MrMosaic, to detect structural mosaic abnormalities using deviations in allele fraction and read coverage from next-generation sequencing data. Whole-exome sequencing (WES) and whole-genome sequencing (WGS) simulations were used to calculate detection performance across a range of mosaic event sizes, types, clonalities, and sequencing depths. The tool was applied to 4911 patients with undiagnosed developmental disorders, and 11 events among nine patients were detected. For eight of these 11 events, mosaicism was observed in saliva but not blood, suggesting that assaying blood alone would miss a large fraction, possibly >50%, of mosaic diagnostic chromosomal rearrangements.
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