Results 261 to 270 of about 184,715 (310)

Deciphering Genomic Complexity of Multiple Myeloma Using Optimized Optical Genome Mapping.

The Journal of Molecular Diagnostics
The genomic evaluation of multiple myeloma in routine diagnostics involves isolating plasma cells expressing CD138, usually followed by fluorescence in situ hybridization analyses. However, cell sorting often yields a limited number of cells, restricting the number of probes that can be used and limiting the analysis to a few markers required for ...
H. Guermouche, Pauline Roynard, Francesca Servoli, Valentin Lestringant, Benoît Quilichini, Christine Terré, Sabine Defasque, C. Roche-Lestienne, D. Penther, A. Daudignon   +9 more
semanticscholar   +3 more sources

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
openaire   +4 more sources

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
openaire   +2 more sources

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.
openaire   +1 more source

Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome Mapping

Genes, Chromosomes and Cancer
Myelodysplastic neoplasia with complex karyotype (CK‐MDS) poses significant clinical challenges and is associated with poor survival. Detection of structural variants (SVs) is crucial for diagnosis, prognostication, and treatment decision‐making in MDS ...
Andriana Valkama, S. Vorimo, A. Tervasmäki, Hannele Räsänen, Eeva-Riitta Savolainen, K. Pylkäs, T. Mantere   +6 more
semanticscholar   +1 more source

Optical Genome Mapping for Prenatal Diagnosis in Fetuses With Structural Anomalies

Prenatal Diagnosis
To evaluate the clinical value of optical genome mapping (OGM) for prenatal diagnosis in fetuses with structural anomalies.
Yiyun Xu, Hao Chen, Qinxin Zhang, Juan Tan, Ran Zhou, Xiu-qing Ji, C. Luo, Lu-lu Meng, An Liu, Yan Wang, Ping Hu, Zhengfeng Xu   +11 more
semanticscholar   +1 more source

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
openaire   +2 more sources

Optical mapping of DNA: Single‐molecule‐based methods for mapping genomes

Biopolymers, 2011
AbstractThe technologies associated with DNA sequencing are rapidly evolving. Indeed, single‐molecule DNA sequencing strategies are cheaper and faster than ever before. Despite this progress, every sequencing platform to date relies on reading the genome in small, abstract fragments, typically of less than 1000 bases in length.
Robert K, Neely, Jochem, Deen, Johan, Hofkens   +2 more
openaire   +2 more sources

Optical PCR: Genomic analysis by long-range PCR and optical mapping

Mammalian Genome, 1999
Optical mapping is an approach for the rapid, automated, non-electrophoretic construction of ordered restriction maps of DNA from ensembles of single molecules. Previously, we used optical mapping to make high-resolution maps of large insert clones such as bacterial artificial chromosomes (BAC) and large genomic DNA molecules.
J, Skiadas, C, Aston, A, Samad, T S, Anantharaman, B, Mishra, D C, Schwartz   +5 more
openaire   +2 more sources

Optical Nano-mapping and Analysis of Plant Genomes

2016
Application of optical mapping based on BioNano Genomics Irys(®) technology ( http://www.bionanogenomics.com/ ) is growing rapidly since its debut in November 2012. The technology can be used to facilitate genome sequence assembly and analysis of genome structural variations.
Ming-Cheng, Luo, Karin R, Deal, Armond, Murray, Tingting, Zhu, Alex R, Hastie, Will, Stedman, Henry, Sadowski, Michael, Saghbini   +7 more
openaire   +2 more sources