ArticleNature biotechnology2012
Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly.
Article in Nature biotechnology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05295277 (Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort), which is not on this map. Cited by 318 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort
Who cites it
318 citing papers in PubMed.
- DOM: Dual Optical Mapping Integrating Sequence-Specific Barcodes and A/T Density Profiles.Small methods · 2026Article
- SEM mapping of sequence-specific protein-DNA interactions on long DNA molecules.Nucleic acids research · 2026Article
- Complementarity of Long-Reads and Optical Mapping in Parkinson's Disease for Structural Variants.Annals of clinical and translational neurology · 2026Article
- A Lab-on-a-Chip for the Extraction and Analysis of Single Molecules of DNA from Biological Media.Nanomaterials (Basel, Switzerland) · 2026Article
- Helicity of a confined bottlebrush ring polymer.Macromolecules · 2026Article
- Characterizing cytosine methylation of polymorphic transposable element insertions using the human pangenome resources.Genome research · 2026Article
- Article
- Optical genome mapping as a diagnostic tool for unsolved balanced translocations in couples with adverse pregnancy outcomes: a case series.European journal of medical research · 2026Article
- Analysis of Single-Stranded Nucleic Acids in Nanochannels.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Recent advances in the detection technologies for balanced chromosomal rearrangements.Frontiers in genetics · 2026Review
- Measurement and clinical interpretation of CRISPR off-targets.Nature genetics · 2026Review
- Sugar beet long-read reference assembly of genotype KWS2320.NAR genomics and bioinformatics · 2025Article
- A haplotype-resolved chromatin landscape connects cis-regulatory variants to trait variation in Citrus.BMC genomics · 2025Article
- Single-molecule capture, release, and dynamical manipulation via reversible electrokinetic confinement (RECON).Science advances · 2025Article
- Review
- Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets.European journal of human genetics : EJHG · 2025Article
- Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- The Emergence of Nanofluidics for Single-Biomolecule Manipulation and Sensing.Analytical chemistry · 2025Review
- Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies.Kidney international reports · 2025Review
- Breakage fusion bridge cycles drive high oncogene number with moderate intratumoural heterogeneity.Nature communications · 2025Article
258 more citing papers are in PubMed but not listed here.
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11 authors.
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Abstract
We describe genome mapping on nanochannel arrays. In this approach, specific sequence motifs in single DNA molecules are fluorescently labeled, and the DNA molecules are uniformly stretched in thousands of silicon channels on a nanofluidic device. Fluorescence imaging allows the construction of maps of the physical distances between occurrences of the sequence motifs. We demonstrate the analysis, individually and as mixtures, of 95 bacterial artificial chromosome (BAC) clones that cover the 4.7-Mb human major histocompatibility complex region. We obtain accurate, haplotype-resolved, sequence motif maps hundreds of kilobases in length, resulting in a median coverage of 114× for the BACs. The final sequence motif map assembly contains three contigs. With an average distance of 9 kb between labels, we detect 22 haplotype differences. We also use the sequence motif maps to provide scaffolds for de novo assembly of sequencing data. Nanochannel genome mapping should facilitate de novo assembly of sequencing reads from complex regions in diploid organisms, haplotype and structural variation analysis and comparative genomics.
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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.