Results 151 to 160 of about 4,090,293 (192)

Application of Optical Genome Mapping for the Diagnosis and Risk Stratification of Myeloid and Lymphoid Malignancies. [PDF]

Int J Mol Sci
Ballesta-Alcaraz L, Bernal M, Vilchez JR, Palacios JA, Jiménez P, Garrido P, Gutiérrez-Bautista JF, Ruiz-Cabello F.   +7 more
europepmc   +1 more source

Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications. [PDF]

Genome Med
Pei Y, Calpena E, Brown JM, Schwessinger R, Platts L, McGowan SJ, Ashraf T, Forzano F, Hurst JA, Jones WD, Sarkar A, Gibbons RJ, Twigg SRF, Wilkie AOM.   +13 more
europepmc   +1 more source

Integrative optical genome mapping and long-read sequencing dissect a pathogenic complex structural variant in a multigenerational Chinese retinitis pigmentosa pedigree. [PDF]

Genes Dis
Ju Y, Duan C, Chen K, Chang Q, Zong Y, Gao F, Xu GZ.   +6 more
europepmc   +1 more source

Systematic assessment of rare and de novo structural variants in 57 patient-parent trios using optical genome mapping

van der Sanden B, Vorimo S, Brunet T, Boughalem A, Jacob M, van Beek R, Kamping E, Rahikkala E, Kuismin O, Moilanen J, Pylkäs K, Graf E, Loesecke S, Brugger M, Derderian K, Schatz U, Wagner M, Zech M, Schwaibold EM, Distelmaier F, Borggraefe I, Vill K, Vissers LE, Winkelmann J, Neveling K, Meitinger T, Mantere T, Trost D, Hoischen A.   +28 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.
Huu Phuc Nguyen, Wanda M Gerding, Deepak Vangala   +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, Gaëlle Salaun, Gwendoline Soler   +2 more
exaly   +5 more sources

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   +3 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   +2 more sources

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

Advances in Molecular Pathology, 2021
Wahab A Khan
exaly   +2 more sources