ArticleProceedings of the National Academy of Sciences of the United States of America2021
Accurate SNV detection in single cells by transposon-based whole-genome amplification of complementary strands.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
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Who cites it
59 citing papers in PubMed, 67 citations in OpenAlex.
- Somatic mutations and single-nucleus transcriptomics reveal uniquely human properties of neuronal aging.bioRxiv : the preprint server for biology · 2026Article
- Somatic mosaicism in the brain: linking development, ageing and neurodegeneration.Nature reviews. Neurology · 2026Review
- Article
- Genome-wide profiling of histone modifications and transcription factor binding at single-cell resolution by DeChIC-seq.Cell research · 2026Article
- DIAG: A Framework for Evaluating Whole-Genome Amplification Quality in Single-Cell SNV Analysis.Biology · 2026Article
- Duplex-Indel: a Snakemake pipeline for somatic Indel calling in Tn5 transposase-based duplex sequencing data.Bioinformatics (Oxford, England) · 2026Article
- Single-Cell and Spatial Omics: Methods and Applications.MedComm · 2026Review
- Disease insights from brain somatic mosaicism.Experimental & molecular medicine · 2026Review
- Single-Cell Genomics and Somatic Variation in Circulating and Cardiac Resident Cells.Circulation research · 2026Review
- Benchmarking of duplex sequencing approaches to reveal somatic mutation landscapes.bioRxiv : the preprint server for biology · 2025Article
- Combined somatic mutation and transcriptome analysis reveals region-specific differences in clonal architecture in human cortex.Cell reports · 2025Article
- Advances in single-cell DNA sequencing enable insights into human somatic mosaicism.Nature reviews. Genetics · 2025Review
- Diverse somatic genomic alterations in single neurons in chronic traumatic encephalopathy.Science (New York, N.Y.) · 2025Article
- A Universal Duplex Sequencing Approach for Accurate Detection of Somatic Mutations.bioRxiv : the preprint server for biology · 2025Article
- Identification of multiple genomic alterations and prediction of neoantigens from circulating tumor cells at the single-cell level.Nature communications · 2025Article
- Improved Mutation Detection in Duplex Sequencing Data with Sample-Specific Error Profiles.bioRxiv : the preprint server for biology · 2025Article
- The Somatic Mosaicism across Human Tissues Network.Nature · 2025Review
- Cell-type-specific patterns and consequences of somatic mutation in development and aging brain.bioRxiv : the preprint server for biology · 2025Article
- Direct measurement of the male germline mutation rate in individuals using sequential sperm samples.Nature communications · 2025Article
- Somatic Genomic and Transcriptomic Changes in Single Ischemic Human Heart Cardiomyocytes.Research square · 2025Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Single-nucleotide variants (SNVs), pertinent to aging and disease, occur sporadically in the human genome, hence necessitating single-cell measurements. However, detection of single-cell SNVs suffers from false positives (FPs) due to intracellular single-stranded DNA damage and the process of whole-genome amplification (WGA). Here, we report a single-cell WGA method termed multiplexed end-tagging amplification of complementary strands (META-CS), which eliminates nearly all FPs by virtue of DNA complementarity, and achieved the highest accuracy thus far. We validated META-CS by sequencing kindred cells and human sperm, and applied it to other human tissues. Investigation of mature single human neurons revealed increasing SNVs with age and potentially unrepaired strand-specific oxidative guanine damage. We determined SNV frequencies along the genome in differentiated single human blood cells, and identified cell type-dependent mutational patterns for major types of lymphocytes.
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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.