ArticleGenome biology2017
OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps.
Article in Genome biology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed.
- A long-read sequencing strategy with overlapping linkers on adjacent fragments (OLAF-Seq) for targeted resequencing and enrichment.Scientific reports · 2024Article
- Accurate identification of structural variations from cancer samples.Briefings in bioinformatics · 2023Article
- Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family with multiple anomalies.Frontiers in genetics · 2023Article
- Multi-Omic Investigations of a 17-19 Translocation LinksInternational journal of molecular sciences · 2022Article
- Progress in Methods for Copy Number Variation Profiling.International journal of molecular sciences · 2022Review
- Recent advances and current challenges in population genomics of structural variation in animals and plants.Frontiers in genetics · 2022Review
- 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
- Detection of structural variations in densely-labelled optical DNA barcodes: A hidden Markov model approach.PloS one · 2021Article
- Structural variation in the sequencing era.Nature reviews. Genetics · 2020Review
- Advances in optical mapping for genomic research.Computational and structural biotechnology journal · 2020Review
- Evolutionary and functional impact of common polymorphic inversions in the human genome.Nature communications · 2019Article
- Genome maps across 26 human populations reveal population-specific patterns of structural variation.Nature communications · 2019Article
- Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.PLoS genetics · 2019Article
- De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations.Nature communications · 2018Article
- Large-Scale Structural Variation Detection in Subterranean Clover Subtypes Using Optical Mapping.Frontiers in plant science · 2018Article
- OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps.Genome biology · 2017Article
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21 authors.
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Abstract
We present a new method, OMSV, for accurately and comprehensively identifying structural variations (SVs) from optical maps. OMSV detects both homozygous and heterozygous SVs, SVs of various types and sizes, and SVs with or without creating or destroying restriction sites. We show that OMSV has high sensitivity and specificity, with clear performance gains over the latest method. Applying OMSV to a human cell line, we identified hundreds of SVs >2 kbp, with 68 % of them missed by sequencing-based callers. Independent experimental validation confirmed the high accuracy of these SVs. The OMSV software is available at http://yiplab.cse.cuhk.edu.hk/omsv/ .
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