Cell line authentication using optical genome mapping [PDF]
BMC GenomicsBackground 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 +4 more
doaj +4 more sources
Unveiling genomic rearrangements in engineered iPSC lines by optical genome mapping [PDF]
Molecular Therapy: Methods & Clinical DevelopmentWe demonstrate here the use of optical genome mapping (OGM) to detect genetic alterations arising from gene editing by various technologies in human induced pluripotent stem cells (iPSCs).
Darren Finlay +6 more
doaj +4 more sources
Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements [PDF]
Frontiers in GeneticsIntroductionIndividuals with balanced chromosomal rearrangements are at an increased risk for infertility, recurrent miscarriages, and the birth of infants with congenital malformations.
Xiaohang Hu +9 more
doaj +3 more sources
The distribution of D4Z4 repeats in China and direct prenatal diagnosis of FSHD by optical genome mapping [PDF]
Orphanet Journal of Rare DiseasesBackground Facioscapulohumeral muscular dystrophy (FSHD) is the second most common form of muscular dystrophy, which is characterized by a reduction in the number of D4Z4 repeats on chromosome 4q35.
Mengmeng Li +7 more
doaj +3 more sources
Optical genome mapping with whole genome sequencing identifies complex chromosomal structural variations in acute leukemia [PDF]
Frontiers in GeneticsIntroductionChromosomal structural variations (SVs) play an important role in the formation of human cancers, including leukemias. However, many complex SVs cannot be identified by conventional tools, including karyotyping, fluorescence in situ ...
Meng-Ju Melody Tsai +15 more
doaj +3 more sources
Single-Molecule Real-Time Sequencing Combined with Optical Mapping Yields Completely Finished Fungal Genome [PDF]
mBio, 2015 Next-generation sequencing (NGS) technologies have increased the scalability, speed, and resolution of genomic sequencing and, thus, have revolutionized genomic studies.
Luigi Faino +6 more
doaj +4 more sources
The Silent Revolution of the Genome: The Role of Optical Genome Mapping in Acute Lymphoblastic Leukemia. [PDF]
Cancers (Basel)Simple Summary Optical Genome Mapping (OGM) is an innovative technology that is transforming the genetic diagnosis of acute lymphoblastic leukemia (ALL).
Simio C, Molica M, De Fazio L, Rossi M.
europepmc +2 more sources
Application of Optical Genome Mapping for the Diagnosis and Risk Stratification of Myeloid and Lymphoid Malignancies. [PDF]
Int J Mol SciOptical genome mapping (OGM) is a novel, high-resolution technology for genome-wide detection of structural variants, offering clear advantages over conventional cytogenetics in hematologic malignancies.
Ballesta-Alcaraz L +7 more
europepmc +2 more sources
Optical Genome Mapping: A New Tool for Cytogenomic Analysis. [PDF]
Genes (Basel)Background/Objectives: Optical genome mapping (OGM) has recently emerged as a new technology in the clinical cytogenomics laboratories. This methodology has the ability to detect balanced and unbalanced structural rearrangements using ultra-high ...
Levy B, Burnside RD, Akkari Y.
europepmc +2 more sources
Clinical Utility of Optical Genome Mapping as an Additional Tool in a Standard Cytogenetic Workup in Hematological Malignancies. [PDF]
Cancers (Basel)Simple Summary Optical genome mapping (OGM) is increasingly utilized in clinical cytogenetics laboratories; however, systematic studies assessing its added value compared to the standard cytogenetics work-up (SCGW) remain limited.
Toruner GA +8 more
europepmc +2 more sources