ArticleGenetics2016
Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays.
Article in Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers.
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Who cites it
76 citing papers in PubMed, 141 citations in OpenAlex.
- Evaluation of acute myeloid leukemia using genomic proximity mapping-based next generation cytogenomics.Haematologica · 2026Article
- Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders.Human mutation · 2026Article
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- Integrated analyses reveal unexpected complex inversion and recombination in RH genes.Blood advances · 2024Article
- Accurate identification of structural variations from cancer samples.Briefings in bioinformatics · 2023Article
- Optical genome mapping in acute myeloid leukemia: a multicenter evaluation.Blood advances · 2023Article
- Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases.The Journal of molecular diagnostics : JMD · 2023Article
- Identification of a familial complex chromosomal rearrangement by optical genome mapping.Molecular cytogenetics · 2022Article
- Human Papillomavirus Integration Strictly Correlates with Global Genome Instability in Head and Neck Cancer.Molecular cancer research : MCR · 2022Article
- Scalable manufacturing of clinical-grade differentiated cardiomyocytes derived from human-induced pluripotent stem cells for regenerative therapy.Cell proliferation · 2022Review
- Lipoprotein(a) beyond the kringle IV repeat polymorphism: The complexity of genetic variation in the LPA gene.Atherosclerosis · 2022Review
- Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.Human genetics · 2022Review
- Tumorigenicity risk of iPSCsPrecision clinical medicine · 2022Review
- Towards improved genetic diagnosis of human differences of sex development.Nature reviews. Genetics · 2021Review
- Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping.American journal of human genetics · 2021Article
- Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.Molecular genetics & genomic medicine · 2021Article
- Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.BMC medical genomics · 2021Article
- Article
16 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
29 authors at 5 institutions in 3 countries.
Funding
Abstract
Comprehensive whole-genome structural variation detection is challenging with current approaches. With diploid cells as DNA source and the presence of numerous repetitive elements, short-read DNA sequencing cannot be used to detect structural variation efficiently. In this report, we show that genome mapping with long, fluorescently labeled DNA molecules imaged on nanochannel arrays can be used for whole-genome structural variation detection without sequencing. While whole-genome haplotyping is not achieved, local phasing (across >150-kb regions) is routine, as molecules from the parental chromosomes are examined separately. In one experiment, we generated genome maps from a trio from the 1000 Genomes Project, compared the maps against that derived from the reference human genome, and identified structural variations that are >5 kb in size. We find that these individuals have many more structural variants than those published, including some with the potential of disrupting gene function or regulation.
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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.