Results 131 to 140 of about 4,090,293 (192)

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

Mol Cytogenet
Yang X, Yin K, Li M, Zhou J, Zhang H, Qi Q, Zhou X, Jiang Y, Wang Y, Hao N.   +9 more
europepmc   +1 more source

MAPPING AND SEQUENCING THE HUMAN GENOME

, 1988
National Research Council (United States). Committee on Mapping and Sequencing the Human Genome
core  

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

Optical Genome Mapping versus Whole-Genome Sequencing in the Clinical Diagnosis of Gynecologic Mesenchymal Tumors. [PDF]

J Mol Diagn
Wallander K, Lin Y, Ivanchuk V, Difilippo V, Chellappa V, Murugan SK, Öfverholm I, Bränström R, Nord KH, Carlson J, Haglund de Flon F.   +10 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 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

Optical Genome Mapping Enhances Structural Variant Detection and Refines Risk Stratification in Chronic Lymphocytic Leukemia. [PDF]

Genes (Basel)
Chakraborty SR, Bickford MA, Smuliac NA, Tonseth KA, Bao J, Murad F, Domínguez Vigil IG, Steinmetz HB, Wainman LM, Shah P, Bengtson EM, PonnamReddy S, Harmon GA, Donnelly LL, Tafe LJ, Karrs JX, Kaur P, Khan WA.   +17 more
europepmc   +1 more source

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

Blood Adv
Díaz-González Á, Mora E, Garrote M, Carreño-Tarragona G, Salido M, Pastor-Galán I, Stuckey R, Cisneros A, Domingo-Monfort JA, Uresandi-Iruin N, Argoitia-Ituarte N, Avetisyan G, García-Ruiz C, Torres-Hernández N, Furió S, Arellano-Rodrigo E, Álvarez N, Vélez P, Villamón E, Segura-Díaz A, Ayala R, Espinet B, Álvarez-Larrán A, Hernández-Boluda JC, Such E.   +24 more
europepmc   +1 more source

TelOMpy enables single-molecule resolution of telomere length from optical genome mapping data. [PDF]

BMC Biol
Pokrovac I, Stipoljev S, Pezer Ž.
europepmc   +1 more source

Diagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome. [PDF]

Mol Syndromol
Vergara A, Monge I, Garoz BF, Ruiz S, Alonso M, Torrelo A, Ortiz Cabrera NV.   +6 more
europepmc   +1 more source