Results 1 to 10 of about 38,693 (276)
Optical map guided genome assembly [PDF]
BMC Bioinformatics, 2020 Background The long reads produced by third generation sequencing technologies have significantly boosted the results of genome assembly but still, genome-wide assemblies solely based on read data cannot be produced.
Miika Leinonen, Leena Salmela
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Validation of rice genome sequence by optical mapping [PDF]
BMC Genomics, 2007 Background Rice feeds much of the world, and possesses the simplest genome analyzed to date within the grass family, making it an economically relevant model system for other cereal crops. Although the rice genome is sequenced, validation and gap closing
Pape Louise +10 more
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Rapid whole genome optical mapping of
Malaria Journal, 2011 Background Immune evasion and drug resistance in malaria have been linked to chromosomal recombination and gene copy number variation (CNV). These events are ideally studied using comparative genomic analyses; however in malaria these analyses are not as
Johnson Jake D +4 more
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Optical Genome Mapping for Cytogenetic Diagnostics in AML
Cancers, 2023 The classification and risk stratification of acute myeloid leukemia (AML) is based on reliable genetic diagnostics. A broad and expanding variety of relevant aberrations are structural variants beyond single-nucleotide variants. Optical Genome Mapping is an unbiased, genome-wide, amplification-free method for the detection of structural variants.
Verena Nilius-Eliliwi +2 more
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Optical mapping of the
BMC Genomics, 2009 Background Infection of cattle with Mycobacterium avium subspecies paratuberculosis (M. ap) causes severe economic losses to the dairy industry in the USA and worldwide. In an effort to better examine diversity among M.
Schwartz David C +4 more
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Cell line authentication using optical genome mapping [PDF]
BMC GenomicsBackground Cell line authentication and karyotype assessment are two critical quality control tests that should be performed when using cell lines for biologic research and are expected measurements for cell therapy development.
Alex Chialastri +4 more
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Analytic Validation of Optical Genome Mapping in Hematological Malignancies
Biomedicines, 2023 Structural variations (SVs) play a key role in the pathogenicity of hematological malignancies. Standard-of-care (SOC) methods such as karyotyping and fluorescence in situ hybridization (FISH), which have been employed globally for the past three decades,
Andy W. C. Pang +13 more
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Sequencing and Optical Genome Mapping for the Adventurous Chemist [PDF]
Chemical & Biomedical ImagingThis review provides a comprehensive overview of the chemistries and workflows of the sequencing methods that have been or are currently commercially available, providing a very brief historical introduction to each method. The main optical genome mapping approaches are introduced in the same manner, although only a subset of these are or have ever ...
Elizabete Ruppeka Rupeika +3 more
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Advances in optical mapping for genomic research
Computational and Structural Biotechnology Journal, 2020 Recent advances in optical mapping have allowed the construction of improved genome assemblies with greater contiguity. Optical mapping also enables genome comparison and identification of large-scale structural variations.
Yuxuan Yuan +2 more
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Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis
Acta Obstetricia et Gynecologica Scandinavica, 2023 Introduction Chromosomal aberrations are the most important etiological factors for birth defects. Optical genome mapping is a novel cytogenetic tool for detecting a broad range of chromosomal aberrations in a single assay, but relevant clinical ...
Qinxin Zhang +12 more
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