Results 241 to 250 of about 98,363 (283)

Exploring the Potential of Optical Genome Mapping in the Diagnosis and Prognosis of Soft Tissue and Bone Tumors. [PDF]

Int J Mol Sci
Berenguer-Rubio A, Such E, Hernández NT, González-Rojo P, Díaz-González Á, Avetisyan G, Gil-Aparicio C, González-López J, Pantoja-Borja N, Rubio-Martínez LA, Hernández-Girón S, Valera-Cuesta MS, Ramírez-Fuentes C, Simonet-Redondo M, Díaz-Beveridge R, de la Calva C, Amaya-Valero JV, Ballester-Ibáñez C, Liquori A, Giner F, Mayordomo-Aranda E.   +20 more
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Unveiling the Complexity of KMT2A Rearrangements in Acute Myeloid Leukemias with Optical Genome Mapping. [PDF]

Cancers (Basel)
Lacoste SA, Gagnon V, Béliveau F, Lavallée S, Collin V, Hébert J.   +5 more
europepmc   +1 more source

Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling. [PDF]

Sci Rep
Yin K, Li M, Zhang H, Chang J, Qi Q, Zhou X, Guo J, Wang Y, Mao X, Hao N, Jiang Y.   +10 more
europepmc   +1 more source

Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics. [PDF]

J Med Genet
Dremsek P, Schachner A, Reischer T, Krampl-Bettelheim E, Bettelheim D, Vrabel S, Delissen Z, Pfeifer M, Weil B, Bajtela R, Hengstschläger M, Laccone F, Neesen J.   +12 more
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Optical Genome Mapping for Oncology Applications

Current Protocols, 2023
AbstractOptical genome mapping (OGM) is a next‐generation cytogenomic technology that has the potential to replace standard‐of‐care technologies used in the genetic workup of various malignancies. The ability to detect various classes of structural variations that include copy number variations, deletions, duplications, balanced and unbalanced events ...
Nikhil Shri, Sahajpal, Ashis K, Mondal, Alex, Hastie, Alka, Chaubey, Ravindra, Kolhe   +4 more
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Genomics via Optical Mapping II: Ordered Restriction Maps

Journal of Computational Biology, 1997
In this paper, we describe our algorithmic approach to constructing ordered restriction maps based on the data created from the images of population of individual DNA molecules (clones) digested by restriction enzymes. The goal is to devise map-making algorithms capable of producing high-resolution, high-accuracy maps rapidly and in a scalable manner ...
T S, Anantharaman, B, Mishra, D C, Schwartz   +2 more
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Optical genome mapping for prenatal diagnosis: A prospective study

Clinica Chimica Acta, 2023
Cytogenetic analysis provides important information for prenatal decision-making and genetic counseling. Optical genome mapping (OGM) has demonstrated its performances in retrospective studies. In our prospective study, we assessed the quality of DNA obtained from cultures of amniotic fluid (AF) and chorionic villi (CV) and evaluated the ability of OGM
Goumy, Carole, Guy Ouedraogo, Zangbéwendé, Soler, Gwendoline, Eymard-Pierre, Eleonore, Laurichesse, Hélène, Delabaere, Amélie, Gallot, Denis, Bouchet, Pamela, Perthus, Isabelle, Pebrel-Richard, Céline, Gouas, Laetitia, Salaun, Gaëlle, Salse, Jérôme, Véronèse, Lauren, Tchirkov, Andrei   +14 more
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Detection of complex chromosome rearrangements using optical genome mapping

Gene, 2023
Chromosomal structural variations (SVs) are a main cause of human genetic disease. Currently, karyotype, chromosomal microarray analysis (CMA), and fluorescent in situ hybridization (FISH) form the backbone of current routine diagnostics (CRD). These methods have their own limitations.
Jiangbo, Qu, Shuo, Li, Dongyi, Yu
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WHOLE GENOME OPTICAL MAPPING

Proceedings of the 4th Asia-Pacific Bioinformatics Conference, 2005
An innovative new technology, optical mapping, is used to infer the genome map of the location of short sequence patterns called restriction sites. The technology, developed by David Schwartz, allows the visualization of the maps of randomly located single molecules around a million base pairs in length.
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Testing for Facioscapulohumeral Muscular Dystrophy with Optical Genome Mapping

Current Protocols, 2023
AbstractThe introduction of optical genome mapping has improved time constraints and a lack of specificity from previous methodologies when performing genome‐wide analyses of samples. Optical genome mapping allows for the detection of structural variations, aberrations, and functionality traits from a single stained molecule of DNA.
Pratik, Koppikar, Suresh, Shenoy, Naga, Guruju, Madhuri, Hegde   +3 more
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