ArticleBMC genomics2013
Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method.
Article in BMC genomics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure.Briefings in bioinformatics · 2022Pooled it
- A single-cell multiomic analysis identifies molecular and gene-regulatory mechanisms dysregulated in developing Down syndrome neocortex.Science (New York, N.Y.) · 2026Article
- Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study.Genetics in medicine open · 2023Article
- MONTAGE: a new tool for high-throughput detection of mosaic copy number variation.BMC genomics · 2021Article
- Bio-collections in autism research.Molecular autism · 2017Review
- Unrevealed mosaicism in the next-generation sequencing era.Molecular genetics and genomics : MGG · 2016Review
- Extensive Hidden Genomic Mosaicism Revealed in Normal Tissue.American journal of human genetics · 2016Article
- Mosaic structural variation in children with developmental disorders.Human molecular genetics · 2015Article
- Somatic mosaicism in the human genome.Genes · 2014Review
- Identification of allelic imbalance with a statistical model for subtle genomic mosaicism.PLoS computational biology · 2014Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundMosaic somatic alterations are present in all multi-cellular organisms, but the physiological effects of low-level mosaicism are largely unknown. Most mosaic alterations remain undetectable with current analytical approaches, although the presence of such alterations is increasingly implicated as causative for disease.
resultsHere, we present the Parent-of-Origin-based Detection (POD) method for chromosomal abnormality detection in trio-based SNP microarray data. Our software implementation, triPOD, was benchmarked using a simulated dataset, outperformed comparable software for sensitivity of abnormality detection, and displayed substantial improvement in the detection of low-level mosaicism while maintaining comparable specificity. Examples of low-level mosaic abnormalities from a large autism dataset demonstrate the benefits of the increased sensitivity provided by triPOD. The triPOD analyses showed robustness across multiple types of Illumina microarray chips. Two large, clinically-relevant datasets were characterized and compared.
conclusionsOur method and software provide a significant advancement in the ability to detect low-level mosaic abnormalities, thereby opening new avenues for research into the implications of mosaicism in pathogenic and non-pathogenic processes.
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