ArticleProceedings of the National Academy of Sciences of the United States of America2017
Ultraaccurate genome sequencing and haplotyping of single human cells.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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
31 citing papers in PubMed, 48 citations in OpenAlex.
- The Use of Single-Cell Mitochondrial DNA SNP Combinations for Distinguishing Organ-Specific Cell Types.Cells · 2026Article
- DIAG: A Framework for Evaluating Whole-Genome Amplification Quality in Single-Cell SNV Analysis.Biology · 2026Article
- Single-cell omics: experimental workflow, data analyses and applications.Science China. Life sciences · 2025Review
- Advances in single-cell sequencing technology in microbiome research.Genes & diseases · 2024Review
- Integrative genomic analysis reveals cancer-associated mutations in patients with ophthalmic tumors.The Journal of international medical research · 2024Article
- Advances in single-cell omics and multiomics for high-resolution molecular profiling.Experimental & molecular medicine · 2024Review
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- Single-cell sequencing technology applied to epigenetics for the study of tumor heterogeneity.Clinical epigenetics · 2023Review
- Decoding Human Biology and Disease Using Single-cell Omics Technologies.Genomics, proteomics & bioinformatics · 2023Review
- From Chaos to Opportunity: Decoding Cancer Heterogeneity for Enhanced Treatment Strategies.Biology · 2023Review
- Toward a systems-level probing of tumor clonality.iScience · 2023Review
- Experimental method for haplotype phasing across the entire length of chromosome 21 in trisomy 21 cells using a chromosome elimination technique.Journal of human genetics · 2022Article
- Single-Circulating Tumor Cell Whole Genome Amplification to Unravel Cancer Heterogeneity and Actionable Biomarkers.International journal of molecular sciences · 2022Review
- Recent advances in single-cell sequencing technologies.Precision clinical medicine · 2022Review
- Recent advances and application of whole genome amplification in molecular diagnosis and medicine.MedComm · 2022Review
- Review
- Advances in application of single-cell RNA sequencing in cardiovascular research.Frontiers in cardiovascular medicine · 2022Review
- Determination of complete chromosomal haplotypes by bulk DNA sequencing.Genome biology · 2021Article
- Accurate SNV detection in single cells by transposon-based whole-genome amplification of complementary strands.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Fully Phased Sequence of a Diploid Human Genome DeterminedG3 (Bethesda, Md.) · 2020Article
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7 authors at 2 institutions in 1 country.
Funding
Abstract
Accurate detection of variants and long-range haplotypes in genomes of single human cells remains very challenging. Common approaches require extensive in vitro amplification of genomes of individual cells using DNA polymerases and high-throughput short-read DNA sequencing. These approaches have two notable drawbacks. First, polymerase replication errors could generate tens of thousands of false-positive calls per genome. Second, relatively short sequence reads contain little to no haplotype information. Here we report a method, which is dubbed SISSOR (single-stranded sequencing using microfluidic reactors), for accurate single-cell genome sequencing and haplotyping. A microfluidic processor is used to separate the Watson and Crick strands of the double-stranded chromosomal DNA in a single cell and to randomly partition megabase-size DNA strands into multiple nanoliter compartments for amplification and construction of barcoded libraries for sequencing. The separation and partitioning of large single-stranded DNA fragments of the homologous chromosome pairs allows for the independent sequencing of each of the complementary and homologous strands. This enables the assembly of long haplotypes and reduction of sequence errors by using the redundant sequence information and haplotype-based error removal. We demonstrated the ability to sequence single-cell genomes with error rates as low as 10
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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.