Results 1 to 10 of about 99,086 (144)

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, Yan Wang, Yiyun Xu, Ran Zhou, Mingtao Huang, Fengchang Qiao, Lulu Meng, An Liu, Jing Zhou, Li Li, Xiuqing Ji, Zhengfeng Xu, Ping Hu   +12 more
doaj   +2 more sources

Rapid whole genome optical mapping of Plasmodium falciparum [PDF]

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, Kirkup Benjamin C, Riley Matthew C, Lesho Emil P, Ockenhouse Christian F   +4 more
doaj   +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   +4 more sources

Cell line authentication using optical genome mapping [PDF]

BMC Genomics
Background 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, Kevin Flowers, L Amarin Cogburn, Damien Fink, Jennifer L. Dashnau   +4 more
doaj   +2 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

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   +2 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

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

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

Molecular Therapy: Methods & Clinical Development
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).
Darren Finlay, Pooja Hor, Benjamin H. Goldenson, Xiao-Hua Li, Rabi Murad, Dan S. Kaufman, Kristiina Vuori   +6 more
doaj   +2 more sources

Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping [PDF]

Orphanet Journal of Rare Diseases
Background Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation (ROHHAD) and neuroendocrine tumor (NET) is a very rare condition with an unknown etiology. While various potential causes have been hypothesized, including
N. van Engelen, H. M. van Santen, F. van Dijk, M. M. Kleisman, J. H.M. Merks, A. Y.N. Schouten-van Meeteren, E. J. Kamping, K. Neveling, A. Hoischen, M. C.J. Jongmans, R. P. Kuiper   +10 more
doaj   +2 more sources