ArticleProceedings of the National Academy of Sciences of the United States of America2010
High-resolution human genome structure by single-molecule analysis.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers.
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Who cites it
102 citing papers in PubMed.
- DOM: Dual Optical Mapping Integrating Sequence-Specific Barcodes and A/T Density Profiles.Small methods · 2026Article
- Comprehensive assessment of the genomic stability of human induced pluripotent stem cells for clinical applications.Stem cell research & therapy · 2026Article
- Prevalence and impact of molecular variation in the three-prime repair exonuclease 1 TREX1 and its implications for oncology.Human genomics · 2025Article
- Developing an insert to protect large DNA molecules during cell lysis.BioTechniques · 2025Article
- Genomic structural variants analysis in leukemia by a novel cytogenetic technique: Optical genome mapping.Cancer science · 2024Review
- Concentration of lambda concatemers using a 3D printed device.Electrophoresis · 2023Article
- Structural Refinement by Direct Mapping Reveals Assembly Inconsistencies near Hi-C Junctions.Plants (Basel, Switzerland) · 2023Article
- A database of restriction maps to expand the utility of bacterial artificial chromosomes.GigaByte (Hong Kong, China) · 2023Article
- Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.Human mutation · 2022Article
- 21 Fluorescent Protein-Based DNA Staining Dyes.Molecules (Basel, Switzerland) · 2022Article
- DNA Labeling Using DNA Methyltransferases.Advances in experimental medicine and biology · 2022Article
- Fast and efficient Rmap assembly using the Bi-labelled de Bruijn graph.Algorithms for molecular biology : AMB · 2021Article
- FaNDOM: Fast nested distance-based seeding of optical maps.Patterns (New York, N.Y.) · 2021Article
- Customized optical mapping by CRISPR-Cas9 mediated DNA labeling with multiple sgRNAs.Nucleic acids research · 2021Article
- Combining dense and sparse labeling in optical DNA mapping.PloS one · 2021Article
- Detection of structural variations in densely-labelled optical DNA barcodes: A hidden Markov model approach.PloS one · 2021Article
- Structural variant identification and characterization.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2020Article
- Structural variation in the sequencing era.Nature reviews. Genetics · 2020Review
- Fast and accurate correction of optical mapping data via spaced seeds.Bioinformatics (Oxford, England) · 2020Article
- Long walk to genomics: History and current approaches to genome sequencing and assembly.Computational and structural biotechnology journal · 2020Review
42 more citing papers are in PubMed but not listed here.
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Authors and funding
20 authors.
Funding
Abstract
Variation in genome structure is an important source of human genetic polymorphism: It affects a large proportion of the genome and has a variety of phenotypic consequences relevant to health and disease. In spite of this, human genome structure variation is incompletely characterized due to a lack of approaches for discovering a broad range of structural variants in a global, comprehensive fashion. We addressed this gap with Optical Mapping, a high-throughput, high-resolution single-molecule system for studying genome structure. We used Optical Mapping to create genome-wide restriction maps of a complete hydatidiform mole and three lymphoblast-derived cell lines, and we validated the approach by demonstrating a strong concordance with existing methods. We also describe thousands of new variants with sizes ranging from kb to Mb.
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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.