ArticleNature biotechnology2023
Control-independent mosaic single nucleotide variant detection with DeepMosaic.
Article in Nature biotechnology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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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
25 citing papers in PubMed.
- Somatic mosaicism in the brain: linking development, ageing and neurodegeneration.Nature reviews. Neurology · 2026Review
- Article
- Disease insights from brain somatic mosaicism.Experimental & molecular medicine · 2026Review
- Scalable and comprehensive mosaic variant calling using DRAGEN.medRxiv : the preprint server for health sciences · 2026Article
- MosaicSim: A Novel Mosaic Variant Simulator Reveals Diminishing Returns of Ultra-High Coverage for Mosaic Variant Detection.bioRxiv : the preprint server for biology · 2025Article
- The Somatic Mosaicism across Human Tissues Network.Nature · 2025Review
- UNISOM: Unified Somatic Calling and Machine Learning-based Classification Enhance the Discovery of CHIP.Genomics, proteomics & bioinformatics · 2025Article
- Identifying genetic errors of immunity due to mosaicism.The Journal of experimental medicine · 2025Review
- Identification of Novel Mosaic Variants in Focal Epilepsy-Associated Patients' Brain Lesions.Genes · 2025Article
- Backtracking Cell Phylogenies in the Human Brain with Somatic Mosaic Variants.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Somatic mutations in autoinflammatory and autoimmune disease.Nature reviews. Rheumatology · 2024Review
- Deep-learning based representation and recognition for genome variants-from SNVs to structural variants.National science review · 2024Article
- Genome-wide detection of somatic mosaicism at short tandem repeats.Bioinformatics (Oxford, England) · 2024Article
- Genetic variation across and within individuals.Nature reviews. Genetics · 2024Review
- Genomic Mosaicism of the Brain: Origin, Impact, and Utility.Neuroscience bulletin · 2024Review
- [Sperm Mosaic Variants and Their Influence on the Offspring].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2024Review
- Article
- Genome-wide detection of somatic mosaicism at short tandem repeats.bioRxiv : the preprint server for biology · 2023Article
- Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases.Scientific data · 2023Article
- Cell-type-resolved somatic mosaicism reveals clonal dynamics of the human forebrain.bioRxiv : the preprint server for biology · 2023Article
Corrections and comments
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Authors and funding
18 authors.
Funding
Abstract
Mosaic variants (MVs) reflect mutagenic processes during embryonic development and environmental exposure, accumulate with aging and underlie diseases such as cancer and autism. The detection of noncancer MVs has been computationally challenging due to the sparse representation of nonclonally expanded MVs. Here we present DeepMosaic, combining an image-based visualization module for single nucleotide MVs and a convolutional neural network-based classification module for control-independent MV detection. DeepMosaic was trained on 180,000 simulated or experimentally assessed MVs, and was benchmarked on 619,740 simulated MVs and 530 independent biologically tested MVs from 16 genomes and 181 exomes. DeepMosaic achieved higher accuracy compared with existing methods on biological data, with a sensitivity of 0.78, specificity of 0.83 and positive predictive value of 0.96 on noncancer whole-genome sequencing data, as well as doubling the validation rate over previous best-practice methods on noncancer whole-exome sequencing data (0.43 versus 0.18). DeepMosaic represents an accurate MV classifier for noncancer samples that can be implemented as an alternative or complement to existing methods.
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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.