Results 101 to 110 of about 22,115 (176)

Cytogenetics in the genomics era: why karyotyping still matters. [PDF]

BMC Med Genomics
Chebly A.
europepmc   +1 more source

Elucidating the pathogenic mechanism of a pedigree with complex rearrangements on chromosome 4 using optical genome mapping technology: a study on the genetics and functional pathways in a child with developmental delay. [PDF]

Mol Cytogenet
Qin J, Zeng Y, Qin S, Wang W, Huang J, Wei X, Chang R, Zheng X, Li Y, Yuan D, Wei X.   +10 more
europepmc   +1 more source

Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy. [PDF]

Mol Cytogenet
Turtinen T, Isohanni P, Anttonen AK, Huhti L, Pylkäs K, Tikkanen M, Hakonen AH, Strang-Karlsson S, Mantere T.   +8 more
europepmc   +1 more source

Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencing. [PDF]

Mol Cytogenet
Blavier G, Lecoquierre F, Guerrot AM, Hélas GJ, Rondeau S, Boland A, Deleuze JF, Nicolas G, Chambon P, Cassinari K.   +9 more
europepmc   +1 more source

Optical genome mapping identifies novel ENOX2::RUNX1 t(X;21)(q26.1;q22.12) rearrangement in acute myeloid leukemia-myelodysplasia related: first case report. [PDF]

Mol Cytogenet
George GV, Ali S, Syposs CR, Iqbal MA.
europepmc   +1 more source

Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy. [PDF]

Front Genet
Min S, Sun J, Chen W, Feng Z, Zhuang Q, Gao Y, Lin S, Sun S, Lu Y, Li S, Tian X, Huang G, Sheng W, Huang X.   +13 more
europepmc   +1 more source

The Silent Revolution of the Genome: The Role of Optical Genome Mapping in Acute Lymphoblastic Leukemia. [PDF]

Cancers (Basel)
Simio C, Molica M, De Fazio L, Rossi M.
europepmc   +1 more source

OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities. [PDF]

Genome Res
Raeisi Dehkordi S, Jia Z, Estabrook J, Hauenstein J, Miller N, Güleray-Lafci N, Neesen J, Hastie A, Chaubey A, Wing Chun Pang A, Dremsek P, Bafna V.   +11 more
europepmc   +1 more source

Comparative Analysis of Targeted RNA-Seq and Optical Genome Mapping for Detecting Gene Rearrangements in Acute Leukemia. [PDF]

Cancers (Basel)
Ok CY, Tang G, Loghavi S, Hu S, Wei Q, Quesada AE, Routbort MJ, Kanagal-Shamanna R, Yin CC, Sarami I, Garces S, Agarwal NK, Luthra R, Fang H, Jelloul FZ, Bryan J, Medeiros LJ, Patel KP, Toruner GA.   +18 more
europepmc   +1 more source

Unveiling genomic rearrangements in engineered iPSC lines by optical genome mapping. [PDF]

Mol Ther Methods Clin Dev
Finlay D, Hor P, Goldenson BH, Li XH, Murad R, Kaufman DS, Vuori K.   +6 more
europepmc   +1 more source