Results 1 to 10 of about 39,770 (113)

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

Chromosome-scale assembly of yeast genomes using enzyme-free, dense optical genome mapping [PDF]

Nature Communications
Large repetitive elements and complex chromosomal organization continue to challenge accurate assembly of eukaryotic genomes. Optical genome mapping (OGM) provides long-range genomic information by imaging individual DNA molecules.
Luis Mario Leal-Garza, Hanna Zachrisson, Albertas Dvirnas, Gaurav Goyal, Ikenna Obi, Sriram KK, Nasim Sabouri, Tobias Ambjörnsson, Fredrik Westerlund   +8 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

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

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

Optical genome mapping reveals complex cytogenetic abnormalities in multiple myeloma [PDF]

Haematologica
Not available.
Jorge A. Palacios, Mónica Bernal, Jose R. Vílchez, Pilar Garrido, Pilar Jiménez, Juan F. Gutiérrez-Bautista, María C. Barrera-Aguilera, Lucía Ballesta, Teresa Rodríguez, María J. Olivares-Durán, Francisco Ruiz-Cabello   +10 more
doaj   +2 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

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   +1 more source

Optical map guided genome assembly

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   +1 more source

Multiplex structural variant detection by whole-genome mapping and nanopore sequencing

Scientific Reports, 2022
Identification of structural variants (SVs) breakpoints is important in studying mutations, mutagenic causes, and functional impacts. Next-generation sequencing and whole-genome optical mapping are extensively used in SV discovery and characterization ...
Lahari Uppuluri, Yilin Wang, Eleanor Young, Jessica S. Wong, Heba Z. Abid, Ming Xiao   +5 more
doaj   +1 more source