Results 1 to 10 of about 22,115 (176)

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

Journal 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, Yan Lü, Hanzhe Zhang, Mengmeng Li, Jiazhen Chang, Xueting Yang, Qingwei Qi, Xiya Zhou, Jiangshan Guo, Yaru Wang, Cuixia Wang, Wei Li, Na Hao, Yulin Jiang   +13 more
doaj   +2 more sources

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

Blood Advances
: Accurate genomic stratification is essential for guiding therapeutic decisions in myelofibrosis (MF), particularly regarding allogeneic stem cell transplant.
Álvaro Díaz-González, Elvira Mora, Marta Garrote, Gonzalo Carreño-Tarragona, Marta Salido, Irene Pastor-Galán, Ruth Stuckey, Adela Cisneros, José Antonio Domingo-Monfort, Nerea Uresandi-Iruin, Nagore Argoitia-Ituarte, Gayane Avetisyan, Cristian García-Ruiz, Neus Torres-Hernández, Santiago Furió, Eduardo Arellano-Rodrigo, Noemí Álvarez, Patricia Vélez, Eva Villamón, Adrián Segura-Díaz, Rosa Ayala, Blanca Espinet, Alberto Álvarez-Larrán, Juan Carlos Hernández-Boluda, Esperanza Such   +24 more
doaj   +2 more sources

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

PLoS 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, Luis Mario Leal-Garza, Zahra Abbaspour, Erik Fröbrant, Karolin Frykholm, Marie Wrande, Linus Sandegren, Fredrik Westerlund, Tobias Ambjörnsson   +8 more
doaj   +2 more sources

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

Oléagineux, 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

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

BMC 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, Ayşe Gül Bayrak Tokaç, Aynur Aday, Dilan Karaca, Mehmet Burak Mutlu, Kıvanç Çefle, Mustafa Nuri Yenerel, Şükrü Öztürk, Sevgi Kalayoğlu Beşışık   +8 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]

European 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, Yingnan Liao, Li Cao, He Lin, Xuemei Wu, Ling Liao, Chang Tan, Shi Ma, Guo Huang   +8 more
doaj   +2 more sources

Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C). [PDF]

Adv Genet (Hoboken)
This study applies optical genome mapping (OGM) to children with multisystem inflammatory syndrome (MIS‐C), revealing rare structural and copy number variants in and near immune‐related genes, including ORAI1, STAT4, ITPR1, BATF, CFHR5, and DOCK2.
Brownstein CA, van der Made CI, Cabral K, Rockowitz S, Kang D, Schieck M, Pang AWC, Robinson JM, Hastie AR, Chaubey A, C.O.V.I.D19hostgenomeS.V. Consortium, Hoischen A, Beggs AH, Adebamowo CA, Andalibi A, Bacanu SA, Bafna V, Bahl J, Barseghyan H, Beggs A, Burdette L, Butte M, Constantoulakis P, Crandall KA, Dehkordi SR, Dennis M, Fang G, Fedrigo O, Finlay D, Goldman MA, Gurusamy U, Hayes V, Hickey G, Hoischen A, Illig T, Ioannidis A, Jarvis E, Koizumi N, Kolhe R, Laamarti M, Labranche C, Leibel S, Levy B, Loose M, Mello C, Nasir J, Phung TL, Rao CPV, Ross T, Sahajpal NS, Shamanna RK, Soto DC, Trablesi A, Wang ZX, Williams SL, Wright V, Zhao H, Zody M.   +57 more
europepmc   +2 more sources

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

Hereditas
Background Complex chromosomal rearrangement (CCR) refers to a structural rearrangement involving at least two chromosomes or a minimum of three breakpoints.
Liyi Cai, Yuying Jiang, Na Zhang, Xinying Chen   +3 more
doaj   +2 more sources

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

Frontiers 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, Trilochan Sahoo, Jia-Chi Wang   +2 more
doaj   +2 more sources

Novel small molecule inhibitor of GPR68 attenuates endothelial dysfunction and lung injury caused by bacterial lipopolysaccharide [PDF]

Scientific Reports
The treatment of acute respiratory distress syndrome (ARDS) associated with high mortality remains a major global clinical challenge. Role of pulmonary endothelial dysfunction in uncontrolled lung inflammation and alveolar flooding is increasingly ...
Pratap Karki, Yunbo Ke, Chen-Ou Zhang, Kamoltip Promnares, Yue Li, Charles H. Williams, Konstantin G. Birukov, Charles C. Hong, Anna A. Birukova   +8 more
doaj   +2 more sources