Results 71 to 80 of about 2,233 (173)

Chromosome-scale assembly of yeast genomes using enzyme-free, dense optical genome mapping. [PDF]

Nat Commun
Leal-Garza LM, Zachrisson H, Dvirnas A, Goyal G, Obi I, Kk S, Sabouri N, Ambjörnsson T, Westerlund F.   +8 more
europepmc   +1 more source

Optical genome mapping refines diagnosis of high-grade myeloid neoplasms through detection of MECOM rearrangements cryptic to conventional karyotype. [PDF]

Am J Clin Pathol
Salcedo-Porras N, AlBulushi F, Parlow JNC, McGinnis E, Spence T.   +4 more
europepmc   +1 more source

Ring chromosomes uncovered by optical genome mapping: impact of telomeric-associated regions and reference genome selection on structural variant interpretation. [PDF]

Chromosome Res
Burssed B, Oliveira ARCP, Bellucco FT, Melaragno MI.   +3 more
europepmc   +1 more source

Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder. [PDF]

Eur J Hum Genet
Kim Y, Jang J, Ryu KS, Chae JH, Ko JM, Kim MJ, Lee S, Moon J, Lee JS, Lee H, Cho SI, Chae SW, Lim H, Lim H, Sung H, Youn S, Lee H, Lee JS, Seong MW.   +18 more
europepmc   +1 more source

Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders. [PDF]

Hum Mutat
Mutlu MB, Öğütlü ÖBG, Öz Ö, Duymuş F, Seyhan S, Tokaç AGB, Tezcan E, Öğütlü H, Demiryılmaz F, Silahtarlıoğlu N, Bilgil K, Elma S, Erdoğan M, Gümüş H, Kumandaş S, Kılıçaslan F.   +15 more
europepmc   +1 more source

Optical genome mapping improves detection and characterisation of cytogenetic abnormalities in non-Hodgkin lymphomas. [PDF]

Br J Haematol
Fall C, Daudignon A, Valmary-Degano S, Mondet J, Bussot L, Molina L, Chevalier S, Bonneville E, Aubert P, Tondeur S, Legrand C, Gaillard JB, Guermouche H, Emadali A, Carras S, Lefebvre C.   +15 more
europepmc   +1 more source

Utility of Optical Genome Mapping in the Characterisation of the Global Genomic Architecture of Paediatric Central Nervous System Tumours: A Pilot Study. [PDF]

Neuropathol Appl Neurobiol
Alesi V, Genovese S, Russo S, Giovannoni I, Barresi S, Tancredi C, Pedace L, Arienzo F, Lombardo A, Bontempo P, Agolini E, Calacci C, Morgia A, Calvieri G, Puggioni C, Cardoni A, Cacchione A, Del Baldo G, Colafati GS, Carai A, Mastronuzzi A, Miele E, Abeni D, Locatelli F, Muda AO, Novelli A, Alaggio R, Rossi S.   +27 more
europepmc   +1 more source

Conundrum resolved by optical genome mapping in a 46,XY girl with difference in sex development and skeletal anomalies. [PDF]

JCEM Case Rep
Daghsni M, Guo F, Forsyth R, Reyes-Múgica M, Yatsenko SA, Witchel SF.   +5 more
europepmc   +1 more source

Combined optical genome mapping and cnv-seq identify complex Y-chromosome rearrangements and ectopy in 46,XX testicular disorder of sex development. [PDF]

Mol Cytogenet
Wang H, Wang H, Xu Z, Chen P, Zheng X, Pan H, Zhang H, Zheng J.   +7 more
europepmc   +1 more source

CO15 | Optical genome mapping identifies multiple structural variation and catastrophic rearrangements in B-cell prolymphocytic leukemia

Haematologica
Introduction. B-cell prolymphocytic leukemia (B-PLL) is an extremely rare condition, accounting for less than 1% of all lymphoid leukemias. The identification of more than 55% of lymphocytes in the blood or bone marrow with prolymphocytic morphology is ...
Rossana Maffei
doaj