Optical genome mapping for structural variation analysis in hematologic malignancies
Sign Up to like & getrecommendations! Published in 2022 at "American Journal of Hematology"
DOI: 10.1002/ajh.26587
Abstract: Optical genome mapping (OGM) is a technology that is rapidly being adopted in clinical genetics laboratories for its ability to detect structural variation (e.g., translocations, inversions, deletions, duplications, etc.) and replace several concurrent standard of… read more here.
Keywords: hematologic malignancies; genome mapping; genome; optical genome ... See more keywords
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1665
Abstract: Currently available structural variant (SV) detection methods do not span the complete spectrum of disease‐causing SVs. Optical genome mapping (OGM), an emerging technology with the potential to resolve diagnostic dilemmas, was performed to investigate clinically‐relevant… read more here.
Keywords: genome mapping; detection mosaic; optical genome;
Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1936
Abstract: Balanced reciprocal translocation is one of the most common chromosomal abnormalities in humans that may lead to infertility, recurrent pregnancy loss, or having children with physical or mental abnormalities. Karyotyping and FISH are traditional detection… read more here.
Keywords: translocation; optical genome; genome mapping; evaluation optical ... See more keywords
Bionano Genome Mapping: High-Throughput, Ultra-Long Molecule Genome Analysis System for Precision Genome Assembly and Haploid-Resolved Structural Variation Discovery.
Sign Up to like & getrecommendations! Published in 2019 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-981-13-6037-4_7
Abstract: Next Generation Sequencing (NGS) has rapidly advanced genomic research with tremendously increased throughput and reduced cost, through reading the fragmented genome content in massively parallel fashion. We have been able to sequence and map genomes… read more here.
Keywords: throughput; genome mapping; bionano genome; genome ... See more keywords
Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19
Sign Up to like & getrecommendations! Published in 2022 at "iScience"
DOI: 10.1016/j.isci.2022.103760
Abstract: Impressive global efforts have identified both rare and common gene variants associated with severe COVID-19 using sequencing technologies. However, these studies lack the sensitivity to accurately detect several classes of variants, especially large structural variants… read more here.
Keywords: factors associated; optical genome; predisposition factors; associated severe ... See more keywords
Abstract 2074: Genome Integrity assessment and verification by optical genome mapping for cell manufacturing/bioprocessing applications
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-2074
Abstract: Cells and cell lines are used for multiple applications such as bioprocessing, therapy, and research. To ensure quality of cells and downstream applications, appropriate quality control (QC) methods are critical. Historically, karyotyping has been employed,… read more here.
Keywords: cell; genome mapping; genome; optical genome ... See more keywords
Abstract 2224: Applying optical genome mapping to detect genomic biomarkers and use for residual disease monitoring in hematologic malignancies
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-2224
Abstract: Disease monitoring is important to detect cancer relapse, often as a result of a treatment-surviving cancer cell population. Detection of relapse is critical to determine the intensity and length of treatments and to predict the… read more here.
Keywords: optical genome; genome mapping; cancer; disease monitoring ... See more keywords
Optical genome mapping in acute myeloid leukemia: a multicenter evaluation
Sign Up to like & getrecommendations! Published in 2022 at "Blood Advances"
DOI: 10.1182/bloodadvances.2022007583
Abstract: Key Points • OGM achieves diagnostic outcomes equivalent to, and in 13% of cases better than, standard-of-care technologies in a real-world setting.• OGM may uncover findings that would alter recommended clinical care or render cases… read more here.
Keywords: myeloid leukemia; genome mapping; optical genome; acute myeloid ... See more keywords
Computational pan-genome mapping and pairwise SNP-distance improve detection of Mycobacterium tuberculosis transmission clusters
Sign Up to like & getrecommendations! Published in 2019 at "PLoS Computational Biology"
DOI: 10.1371/journal.pcbi.1007527
Abstract: Next-generation sequencing based base-by-base distance measures have become an integral complement to epidemiological investigation of infectious disease outbreaks. This study introduces PANPASCO, a computational pan-genome mapping based, pairwise distance method that is highly sensitive to… read more here.
Keywords: distance; pan genome; genome mapping; computational pan ... See more keywords
Optical Genome Mapping as a Diagnostic Tool in Pediatric Acute Myeloid Leukemia
Sign Up to like & getrecommendations! Published in 2022 at "Cancers"
DOI: 10.3390/cancers14092058
Abstract: Simple Summary Treatment of pediatric acute myeloid leukemia (AML) is stratified according to multiple recurrent genetic aberrations, which require for detection of different diagnostic methods such as karyotyping and fluorescence in situ hybridization (FISH). The… read more here.
Keywords: optical genome; acute; leukemia; genome mapping ... See more keywords
Optical Genome Mapping for Cytogenetic Diagnostics in AML
Sign Up to like & getrecommendations! Published in 2023 at "Cancers"
DOI: 10.3390/cancers15061684
Abstract: Simple Summary Today, the classification of acute myeloid leukemia is mainly based on genetic aberrations found in leukemic cells. Classifying this disease is necessary for exact risk stratification, which, in turn, is relevant for treatment… read more here.
Keywords: genome mapping; genome; optical genome; cytogenetic diagnostics ... See more keywords