Results 61 to 70 of about 2,233 (173)

Global Recommendations for the Use of Diagnostic Genomic Sequencing in the Prenatal Setting on Behalf of the ESHG and ISPD

Prenatal Diagnosis, Volume 46, Issue 11, Page 1683-1702, October 2026.
Zandra C. Deans, Lina Basel Salmon, Kwong Wai Choy, Guido de Wert, Zirui Dong, Lilian Downie, Francesca Romana Grati, Sabine Hentze, Paula Jorge, Brynn Levy, Luca Lovrecic, Dora Mayen, Álvaro Mendes, Michael Morris, Ashley Pritchard, Raquel Gouveia Silva, Tina‐Marié Wessels, Francesca Forzano, Natalie J. Chandler   +18 more
wiley   +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

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

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

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   +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

Optimization of serum-free medium supplemented with microalgal extract using response surface methodology for human fibroblast culture

Journal of Biological Engineering
Background Animal cell culture has become an essential tool in biomedical research and industrial vaccine and biopharmaceutical development. Fetal bovine serum (FBS) is widely used as a culture supplement because of its rich composition of nutrients and ...
Eun-Jeong Koh, Won-Kyu Lee, Seong-Yeong Heo, Areumi Park, Eunyoung Jo, Woon-Yong Choi, Soo-Jin Heo   +6 more
doaj   +1 more source

Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders. [PDF]

Hum Genet
Lederbogen RC, Hoffjan S, Köhler C, Thiels C, Mau-Holzmann UA, Singer S, Schreiber S, Purczeld A, Buchert R, Yusenko MV, Nguyen HHP, Gerding WM.   +11 more
europepmc   +1 more source