Results 11 to 20 of about 22,450 (179)

Evaluation of the efficacy of optical genome mapping in prenatal diagnosis: a retrospective cohort study [PDF]

open access: yesJournal of Translational Medicine
Background Optical genome mapping (OGM) is an emerging cytogenetic method for concurrently detecting structural variants (SVs) and copy number variants (CNVs). However, its clinical application in prenatal diagnosis remains underexplored.
Kaili Yin   +13 more
doaj   +2 more sources

OGM Information des consommateurs et séparation des filières OGM/non-OGM [PDF]

open access: yesOléagineux, Corps gras, Lipides, 2000
Un des problèmes au centre de la controverse sur l’utilisation des organismes génétiquement modifiés (OGM) dans l’agriculture et l’alimentation est celui de l’information des citoyens et des consommateurs.
Valceschini Egizio
doaj   +2 more sources

Optical genome mapping in myelofibrosis: enhancing prognostic accuracy through high-resolution genomic profiling [PDF]

open access: yesBlood Advances
: Accurate genomic stratification is essential for guiding therapeutic decisions in myelofibrosis (MF), particularly regarding allogeneic stem cell transplant.
Álvaro Díaz-González   +24 more
doaj   +2 more sources

DOGMA: de novo assembly of densely labelled optical DNA maps using a matrix profile approach. [PDF]

open access: yesPLoS ONE
In optical genome mapping (OGM), large numbers of individual DNA maps-sequence-specific data series along single DNA molecules-are produced. Such individual maps have to be stitched together in a process called de novo OGM assembly in order to create ...
Albertas Dvirnas   +8 more
doaj   +2 more sources

A methodological study on the process of prenatal optical genome mapping: focusing on cell culture and quality control [PDF]

open access: yesMolecular Cytogenetics
Background Optical genome mapping (OGM) has demonstrated significant potential in detecting structural variations (SVs) and has been comprehensively evaluated both retrospectively and prospectively in prenatal diagnosis.
Xueting Yang   +9 more
doaj   +2 more sources

Optical genome mapping as a diagnostic tool for unsolved balanced translocations in couples with adverse pregnancy outcomes: a case series [PDF]

open access: yesEuropean Journal of Medical Research
Objective Cryptic balanced translocations are a challenging diagnostic dilemma in conventional cytogenetics. This study aimed to evaluate the utility of optical genome mapping (OGM), an emerging technology for detecting structural variations, in ...
Xiaohuan Zhang   +8 more
doaj   +2 more sources

Pilot evaluation of optical genome mapping in chronic lymphocytic leukemia: complementing FISH analysis [PDF]

open access: yesBMC Cancer
Background The clinical heterogeneity observed in chronic lymphocytic leukemia (CLL) is largely attributed to diverse underlying genomic alterations. Fluorescence in situ hybridization (FISH) remains the standard cytogenetic technique but is limited to ...
Simge Erdem   +8 more
doaj   +2 more sources

Optical genome mapping of a complex structural rearrangement family line on chromosome 18 [PDF]

open access: yesHereditas
Background Complex chromosomal rearrangement (CCR) refers to a structural rearrangement involving at least two chromosomes or a minimum of three breakpoints.
Liyi Cai   +3 more
doaj   +2 more sources

Optimization of serum-free medium supplemented with microalgal extract using response surface methodology for human fibroblast culture [PDF]

open access: yesJournal of Biological Engineering
Background Animal cell culture has become an essential tool in biomedical research and industrial vaccine and biopharmaceutical development. Fetal bovine serum (FBS) is widely used as a culture supplement because of its rich composition of nutrients and ...
Eun-Jeong Koh   +6 more
doaj   +2 more sources

Case Report: Unraveling complex genomic alterations in a case of chronic lymphocytic leukemia using optical genome mapping [PDF]

open access: yesFrontiers in Oncology
Chronic lymphocytic leukemia (CLL) is one of the most prevalent adult leukemias, derived from mature B-cells and exhibiting a highly heterogeneous disease course. Standard cytogenetic analysis of CLL includes FISH and karyotyping.
Leila Youssefian   +2 more
doaj   +2 more sources

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