Results 241 to 250 of about 99,235 (279)

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

Optical Genome Mapping for Cytogenetic Diagnostics in AML

Cancers, 2023
The classification and risk stratification of acute myeloid leukemia (AML) is based on reliable genetic diagnostics. A broad and expanding variety of relevant aberrations are structural variants beyond single-nucleotide variants. Optical Genome Mapping is an unbiased, genome-wide, amplification-free method for the detection of structural variants.
Verena Nilius-Eliliwi, Wanda M Gerding, Roland Schroers   +2 more
exaly   +3 more sources

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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
openaire   +2 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
Carole Goumy
exaly   +5 more sources

WHOLE GENOME OPTICAL MAPPING [PDF]

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

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 ...
Thomas S. Anantharaman, Bud Mishra, David C. Schwartz   +2 more
openaire   +2 more sources

Applications of Optical Genome Mapping in Next-Generation Cytogenetics and Genomics

Advances in Molecular Pathology, 2021
Diana M Toledo
exaly   +2 more sources

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 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

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