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Cytogenetics and the Revolution of Optical Genome Mapping in the Diagnosis of Diseases

Discovery Medicine
The study of chromosomal shape, characteristics, and behavior in somatic cell division (mitosis) during growth and development and in germ cell division (meiosis) during reproduction is known as cytogenetics. Many techniques can be used for cytogenetics, including fluorescent in situ hybridization (FISH), spectral karyotyping (SKY), multicolor FISH (M ...
Osama M, Al-Amer, Yahya, Khubrani
openaire   +2 more sources

Mapping the genome one molecule at a time — optical mapping

Nature, 1995
Akhtar H. Samad   +19 more
openaire   +2 more sources

Identification of Somatic Structural Variants in Solid Tumors by Optical Genome Mapping

Journal of Personalized Medicine, 2021
Alex Hastie   +2 more
exaly  

Optical Genome Mapping: A Machine-Based Platform in Cytogenomics

Optical genome mapping (OGM) has generated excitement following decades of research and development. Now, commercially available technical platforms have been used to compare various other cytogenetic and cytogenomic technologies, including karyotype, microarrays, and DNA sequencing, with impressive results.
Jing Christine, Ye, Guilin, Tang
openaire   +2 more sources

Optical Genome Mapping in Routine Cytogenetic Diagnosis of Acute Leukemia

Cancers, 2023
Zangbéwendé Guy Ouedraogo   +2 more
exaly  

Optical Genome Mapping as a Diagnostic Tool in Pediatric Acute Myeloid Leukemia

Cancers, 2022
Dirk Reinhardt   +2 more
exaly  

Use of Optical Genome Mapping to Detect Structural Variants in Neuroblastoma

Cancers, 2023
Deborah Tweddle   +2 more
exaly  

Genomic mapping: a statistical and algorithmic analysis of the optical mapping system

2015
The ability to conduct whole genome analysis of variation is slowly becoming a reality with both improvements in biotechnology and advancements in data analysis. However, large-scale de novo sequencing still remains a formidable task for complex plant and mammalian genomes.
openaire   +1 more source

Cytogenetic Assessment and Risk Stratification in Myelofibrosis with Optical Genome Mapping

Cancers, 2023
JOSÉ Cervera   +2 more
exaly  

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