Results 1 to 10 of about 37,830 (248)

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

Chem Biomed 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 ...
Ruppeka Rupeika E, D'Huys L, Leen V, Hofkens J.   +3 more
europepmc   +6 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   +5 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.
Chialastri A, Flowers K, Cogburn LA, Fink D, Dashnau JL.   +4 more
europepmc   +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

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]

Front Genet
IntroductionIndividuals with balanced chromosomal rearrangements are at an increased risk for infertility, recurrent miscarriages, and the birth of infants with congenital malformations.
Hu X, Guo J, Sang H, Yan J, Chang H, Liu T, Dong H, Kong M, Tian Y, Jiang L.   +9 more
europepmc   +2 more sources

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

Haematologica
Not available.
Palacios JA, Bernal M, Vílchez JR, Garrido P, Jiménez P, Gutiérrez-Bautista JF, Barrera-Aguilera MC, Ballesta L, Rodríguez T, Olivares-Durán MJ, Ruiz-Cabello F.   +10 more
europepmc   +2 more sources

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

Orphanet J Rare Dis
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
van Engelen N, van Santen HM, van Dijk F, Kleisman MM, Merks JHM, Schouten-van Meeteren AYN, Kamping EJ, Neveling K, Hoischen A, Jongmans MCJ, Kuiper RP.   +10 more
europepmc   +2 more sources

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   +1 more source

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