Results 61 to 70 of about 2,137 (173)

Revisión: biotecnología aplicada a la viticultura

RIA: Revista Investigaciones Agropecuarias, 2021
El vino es una bebida altamente comercializada; en las últimas tres décadas se ha observado un aumento en la globalización de este producto. Las empresas vitivinícolas buscan nuevos avances tecnológicos que permitan aumentar la producción de vino ...
E.A. Tapia, B. Madrigal, E. Herrera
doaj  

Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample

Cancer Cell International, 2022
Background Prostate cancer (PCa) is characterized by complex genomic rearrangements such as the ETS oncogene family fusions, yet the clinical relevance is not well established.
Yeeun Shim, Jongsoo Lee, Jieun Seo, Cheol Keun Park, Saeam Shin, Hyunho Han, Seung-Tae Lee, Jong Rak Choi, Byung Ha Chung, Young Deuk Choi   +9 more
doaj   +1 more source

Cell line authentication using optical genome mapping

BMC Genomics
Background Cell line authentication and karyotype assessment are two critical quality control tests that should be performed when using cell lines for biologic research and are expected measurements for cell therapy development.
Alex Chialastri, Kevin Flowers, L Amarin Cogburn, Damien Fink, Jennifer L. Dashnau   +4 more
doaj   +1 more source

Abstracts

Molecular Oncology, Volume 20, Issue S1, Page 1-692, August 2026.
Abstracts submitted to the ‘EACR 2026 Congress: Innovative Cancer Science’, from 08–11 June 2026 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +1 more source

Value of Optical Genome Mapping (OGM) for Diagnostics of Rare Diseases: A Family Case Report

Balkan Journal of Medical Genetics
Optical genome mapping (OGM) is a novel method enabling the detection of structural genomic variants. The method is based on the laser image acquisition of single, labeled, high-molecular-weight DNA molecules and can detect structural genomic variants ...
Kovanda A, Miljanović O, Lovrečić L, Maver A, Hodžić A, Peterlin B   +5 more
doaj   +1 more source

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

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   +1 more source

光学基因组图谱技术在复杂染色体重排中的应用

Zhongshan Daxue xuebao. Yixue kexue ban, 2023
目的探讨光学基因组图谱技术（OGM）在复杂染色体重排中的应用。方法收集2022年1月到2023年6月期间，在中山大学附属第六医院生殖医学中心进行辅助生殖助孕的染色体复杂重排患者5例，对患者进行OGM检测，纳米孔三代测序和胚胎植入前遗传学检测（PGT），并与核型分析、染色体微阵列分析技术（CMA）/基因组拷贝数变异测序（CNV-Seq）的结果分析对比。结果相互易位合并插入，相互易位合并倒位，三联易位均能被OGM成功检测，且与纳米孔测序和CMA/CNV-Seq结果相符。OGM成功定位断裂点位置 ...
何姝婧, 张志强, 黄乙涓, 徐丽南, 陈元球, 方丛, 任姿   +6 more
doaj  

Optical genome mapping: Unraveling complex variations and enabling precise diagnosis in dystrophinopathy

Annals of Clinical and Translational Neurology
Objective Approximately 7% of individuals with dystrophinopathy remain undiagnosed at the genetic level using conventional genetic tests like multiplex ligation‐dependent probe amplification (MLPA) and next‐generation sequencing (NGS).
Jiahui Mai, Jing Duan, Xiaoyu Chen, Liqin Liu, Dachao Liang, Tao Fu, Gang Lu, Wai Yee Chan, Xufeng Luo, Feiqiu Wen, Jianxiang Liao, Zhuo Li, Xinguo Lu   +12 more
doaj   +1 more source

Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders

Genome Medicine
Background Structural variations (SVs) are key genetic contributors to neurodevelopmental disorders (NDDs). Exome sequencing (ES), the current first-line tool for genetic testing of NDDs, falls short in SVs detection.
Bing Xiao, Xiaomei Luo, Yi Liu, Hui Ye, Huili Liu, Yanjie Fan, Yongguo Yu   +6 more
doaj   +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