Rapid whole genome optical mapping of
Malaria Journal, 2011 Background Immune evasion and drug resistance in malaria have been linked to chromosomal recombination and gene copy number variation (CNV). These events are ideally studied using comparative genomic analyses; however in malaria these analyses are not as
Johnson Jake D +4 more
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Validation of rice genome sequence by optical mapping [PDF]
BMC Genomics, 2007 Background Rice feeds much of the world, and possesses the simplest genome analyzed to date within the grass family, making it an economically relevant model system for other cereal crops. Although the rice genome is sequenced, validation and gap closing
Pape Louise +10 more
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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
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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
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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
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Detection of structural DNA variants in medulloblastomas using optical genome mapping [PDF]
Acta Neuropathologica CommunicationsMedulloblastoma (MB) is the most common malignant brain tumor in children that is subdivided into distinct MB groups characterized by specific genetic, epigenetic, and transcriptional profiles.
Nadezhda Kubon +11 more
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Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping [PDF]
Orphanet Journal of Rare DiseasesBackground Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation (ROHHAD) and neuroendocrine tumor (NET) is a very rare condition with an unknown etiology. While various potential causes have been hypothesized, including
N. van Engelen +10 more
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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
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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
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Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis
Acta Obstetricia et Gynecologica Scandinavica, 2023 Introduction Chromosomal aberrations are the most important etiological factors for birth defects. Optical genome mapping is a novel cytogenetic tool for detecting a broad range of chromosomal aberrations in a single assay, but relevant clinical ...
Qinxin Zhang +12 more
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