Results 11 to 20 of about 98,363 (283)

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
doaj   +4 more sources

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, Claire Yik-Lok Chung, Ting-Fung Chan   +2 more
doaj   +3 more sources

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, Karena Kosco, Nikhil S. Sahajpal, Arthi Sridhar, Jen Hauenstein, Benjamin Clifford, Joey Estabrook, Alex D. Chitsazan, Trilochan Sahoo, Anwar Iqbal, Ravindra Kolhe, Gordana Raca, Alex R. Hastie, Alka Chaubey   +13 more
doaj   +3 more sources

Sequencing and Optical Genome Mapping for the Adventurous Chemist [PDF]

Chemical & Biomedical Imaging
This 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, Laurens D’Huys, Volker Leen, Johan Hofkens   +3 more
doaj   +5 more sources

Optical genome mapping identified deletions, inversions, and insertions in hemophilia [PDF]

Blood Advances
Boyan Liu, Lu Zhou, Lijuan Cao, Haoning Liu, Laigen Tong, Zichan Zhang, Hongjie Shen, Changgeng Ruan, Yafeng Zhou, Miao Jiang   +9 more
doaj   +4 more sources

Optical Genome Mapping ( OGM) : Looking beyond karyotyping

Asian Journal of Medical Sciences
Optical genome mapping (OGM) is an advanced technology that delivers a distinct view of genome structure. It presents numerous benefits compared to conventional sequencing techniques, as well as karyotyping in identifying large-scale structural ...
Ruby Dhar , Arun Kumar , Subhradip Karmakar   +2 more
doaj   +2 more sources

Unveiling genomic rearrangements in engineered iPSC lines by optical genome mapping. [PDF]

Mol Ther Methods Clin Dev
ABSTRACTWe demonstrate here the use of optical genome mapping (OGM) to detect genetic alterations arising from gene editing by various technologies in human induced pluripotent stem cells (iPSCs). OGM enables an unbiased and comprehensive analysis of the entire genome, allowing the detection of genomic structural variants (SVs) of all classes with a ...
Finlay D, Hor P, Goldenson BH, Li XH, Murad R, Kaufman DS, Vuori K.   +6 more
europepmc   +2 more sources

Optical genome mapping enables constitutional chromosomal aberration detection [PDF]

The American Journal of Human Genetics, 2021
Chromosomal aberrations including structural variations (SVs) are a major cause of human genetic diseases. Their detection in clinical routine still relies on standard cytogenetics. Drawbacks of these tests are a very low resolution (karyotyping) and the inability to detect balanced SVs or indicate the genomic localization and orientation of duplicated
Tuomo, Mantere, Kornelia, Neveling, Céline, Pebrel-Richard, Marion, Benoist, Guillaume, van der Zande, Ellen, Kater-Baats, Imane, Baatout, Ronald, van Beek, Tony, Yammine, Michiel, Oorsprong, Faten, Hsoumi, Daniel, Olde-Weghuis, Wed, Majdali, Susan, Vermeulen, Marc, Pauper, Aziza, Lebbar, Marian, Stevens-Kroef, Damien, Sanlaville, Jean Michel, Dupont, Dominique, Smeets, Alexander, Hoischen, Caroline, Schluth-Bolard, Laïla, El Khattabi   +22 more
openaire   +3 more sources

OMGS: Optical Map-based Genome Scaffolding [PDF]

Journal of Computational Biology, 2019
AbstractDue to the current limitations of sequencing technologies,de novogenome assembly is typically carried out in two stages, namely contig (sequence) assembly and scaffolding. While scaffolding is computationally easier than sequence assembly, the scaffolding problem can be challenging due to the high repetitive content of eukaryotic genomes ...
Pan, Weihua, Jiang, Tao, Lonardi, Stefano   +2 more
openaire   +4 more sources

Optical Whole-Genome Restriction Mapping as a Tool for Rapidly Distinguishing and Identifying Bacterial Contaminants in Clinical Samples [PDF]

Journal of Clinical and Diagnostic Research, 2015
Introduction: Optical restriction genome mapping is a technology in which a genome is linearized on a surface and digested with specific restriction enzymes, giving an arrangement of the genome with gaps whose order and size are unique for a given ...
Richard R. Chapleau, James C. Baldwin
doaj   +1 more source