Genome-Wide Mapping of Copy Number Variation in Humans: Comparative Analysis of High Resolution Array Platforms
Haraksingh RR, Abyzov A, Gerstein M, Urban AE, Snyder M. Genome-Wide Mapping of Copy Number Variation in Humans: Comparative Analysis of High Resolution Array Platforms. PLOS ONE 2011, 6: e27859. PMID: 22140474, PMCID: PMC3227574, DOI: 10.1371/journal.pone.0027859.Peer-Reviewed Original ResearchConceptsArray comparative genome hybridizationCopy number variantsHigh‐resolution array platformGenome-wide CNV detectionCNV detectionGenome-wide detectionHuman genomic variationComparative genome hybridizationSingle nucleotide polymorphism (SNP) genotypingCopy number variationsAffymetrix SNP 6.0 arraysArray-based platformsNucleotide polymorphism genotypingM-CGHWide mappingGenomic variationSNP 6.0 arraysCytogenetic researchWhole genomeGenome hybridizationSample NA12878Breakpoint resolutionNumber variationsNumber variantsGenomeAGE: defining breakpoints of genomic structural variants at single-nucleotide resolution, through optimal alignments with gap excision
Abyzov A, Gerstein M. AGE: defining breakpoints of genomic structural variants at single-nucleotide resolution, through optimal alignments with gap excision. Bioinformatics 2011, 27: 595-603. PMID: 21233167, PMCID: PMC3042181, DOI: 10.1093/bioinformatics/btq713.Peer-Reviewed Original ResearchConceptsLocal alignmentDownloadable software packageMemory-efficient implementationDynamic programming algorithmPersonal genome sequencesClassical algorithmsOptimal alignmentAlignment scoresOptimal solutionSoftware packageCorrect sequence alignmentAlgorithmComplex eventsImportant problemBreakpoint resolutionSequence alignmentImplementationCorrect alignmentAlignmentComputation