Results 11 to 20 of about 38,693 (276)

Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements [PDF]

Frontiers in Genetics
IntroductionIndividuals with balanced chromosomal rearrangements are at an increased risk for infertility, recurrent miscarriages, and the birth of infants with congenital malformations.
Xiaohang Hu, Jing Guo, Haiyang Sang, Jinyan Yan, Hong Chang, Ting Liu, Haixin Dong, Min Kong, Yanjun Tian, Liqing Jiang   +9 more
doaj   +4 more sources

Optical mapping as a routine tool for bacterial genome sequence finishing [PDF]

BMC Genomics, 2007
Background In sequencing the genomes of two Xenorhabdus species, we encountered a large number of sequence repeats and assembly anomalies that stalled finishing efforts.
Gaudriault Sophie, Forst Steve, Du Zijin, Darby Creg, Bode Helge B, Barbazuk Brad, Miller Nancy, Henkhaus John, Goldman Barry S, Norton Stacie, Latreille Phil, Goodner Brad, Goodrich-Blair Heidi, Slater Steven   +13 more
doaj   +2 more sources

Whole-Genome Shotgun Optical Mapping of Rhodospirillum rubrum [PDF]

Applied and Environmental Microbiology, 2005
ABSTRACT Rhodospirillum rubrum is a phototrophic purple nonsulfur bacterium known for its unique and well-studied nitrogen fixation and carbon monoxide oxidation systems and as a source of hydrogen and biodegradable plastic production.
Reslewic, Susan, Zhou, Shiguo, Place, Mike, Zhang, Yaoping, Briska, Adam, Goldstein, Steve, Churas, Chris, Runnheim, Rod, Forrest, Dan, Lim, Alex, Lapidus, Alla, Han, Cliff S., Roberts, Gary P., Schwartz, David C.   +13 more
openaire   +6 more sources

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

Mol Ther Methods Clin Dev
ABSTRACT We 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 ...
Finlay D, Hor P, Goldenson BH, Li XH, Murad R, Kaufman DS, Vuori K.   +6 more
europepmc   +5 more sources

Feasibility of Optical Genome Mapping in Cytogenetic Diagnostics of Hematological Neoplasms: A New Way to Look at DNA

Diagnostics, 2023
Optical genome mapping (OGM) is a new genome-wide technology that can reveal both structural genomic variations (SVs) and copy number variations (CNVs) in a single assay.
Nicoletta Coccaro, Luisa Anelli, Antonella Zagaria, Francesco Tarantini, Cosimo Cumbo, Giuseppina Tota, Crescenzio Francesco Minervini, Angela Minervini, Maria Rosa Conserva, Immacolata Redavid, Elisa Parciante, Maria Giovanna Macchia, Giorgina Specchia, Pellegrino Musto, Francesco Albano   +14 more
doaj   +3 more sources

Optical Genome Mapping: A New Tool for Cytogenomic Analysis. [PDF]

Genes (Basel)
Background/Objectives: Optical genome mapping (OGM) has recently emerged as a new technology in the clinical cytogenomics laboratories. This methodology has the ability to detect balanced and unbalanced structural rearrangements using ultra-high molecular weight DNA.
Levy B, Burnside RD, Akkari Y.
europepmc   +3 more sources

Single-Molecule Real-Time Sequencing Combined with Optical Mapping Yields Completely Finished Fungal Genome [PDF]

mBio, 2015
Next-generation sequencing (NGS) technologies have increased the scalability, speed, and resolution of genomic sequencing and, thus, have revolutionized genomic studies.
Luigi Faino, Michael F. Seidl, Erwin Datema, Grardy C. M. van den Berg, Antoine Janssen, Alexander H. J. Wittenberg, Bart P. H. J. Thomma   +6 more
doaj   +3 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

Detection of structural DNA variants in medulloblastomas using optical genome mapping [PDF]

Acta Neuropathologica Communications
Medulloblastoma (MB) is the most common malignant brain tumor in children that is subdivided into distinct MB groups characterized by specific genetic, epigenetic, and transcriptional profiles.
Nadezhda Kubon, Mirela Bălan, David Koppstein, Sophia Praeger, Marietta Wolter, Peter Ebert, David Pauck, Jörg Felsberg, Thomas Beez, Daniel Picard, Marc Remke, Guido Reifenberger   +11 more
doaj   +2 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