Search results for "Structural variations"

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CLOVE: classification of genomic fusions into structural variation events

2017

Background A precise understanding of structural variants (SVs) in DNA is important in the study of cancer and population diversity. Many methods have been designed to identify SVs from DNA sequencing data. However, the problem remains challenging because existing approaches suffer from low sensitivity, precision, and positional accuracy. Furthermore, many existing tools only identify breakpoints, and so not collect related breakpoints and classify them as a particular type of SV. Due to the rapidly increasing usage of high throughput sequencing technologies in this area, there is an urgent need for algorithms that can accurately classify complex genomic rearrangements (involving more than …

0301 basic medicineGenomicsBiologycomputer.software_genrelcsh:Computer applications to medicine. Medical informaticsBiochemistryChromosomesDNA sequencingSet (abstract data type)Structural variationUser-Computer Interface03 medical and health sciencesStructural BiologyEscherichia coliHumansCopy-number variationMolecular Biologylcsh:QH301-705.5InternetMethodology ArticleApplied MathematicsBreakpointGenomic rearrangementsDNAGenomicsStructural variationsComputer Science ApplicationsIdentification (information)030104 developmental biologylcsh:Biology (General)Nucleic Acid ConformationGraph (abstract data type)lcsh:R858-859.7Data miningcomputerAlgorithmsBMC Bioinformatics
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Analysis of extended genomic rearrangements in oncological research.

2007

Screening for genomic rearrangements is a fundamental task in the genetic diagnosis of many inherited disorders including cancer-predisposing syndromes. Several methods were developed for analysis of structural genomic abnormalities, some are targeted to the analysis of one or few specific loci, others are designed to scan the whole genome. Locus-specific methods are used when the candidate loci responsible for the specific pathological condition are known. Whole-genome methods are used to discover loci bearing structural abnormalities when the disease-associated locus is unknown. Three main approaches have been employed for the analysis of locus-specific structural changes. The first two a…

GeneticsChromosome AberrationsGene RearrangementRecombination GeneticHybridization probecopy number gene dosage locus-specific molecular diagnosis mutation detection structural variationsGenomicsHematologyGene rearrangementGenomicsBiologyMolecular Inversion ProbeMedical OncologyOncologyNeoplasmsMultiplex polymerase chain reactionHumansMultiplexGenotypingSNP arrayAnnals of oncology : official journal of the European Society for Medical Oncology
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