DNA Copy Number VariationsGene DosageComparative Genomic HybridizationGenetic VariationGenome, HumanGene DuplicationPolymorphism, Single NucleotideSegmental Duplications, GenomicOligonucleotide Array Sequence AnalysisGenome-Wide Association StudyGenomicsGenotypeSequence Analysis, DNAGenomic Structural VariationGenomeGenetic Predisposition to DiseaseGenetic LociHereditary Breast and Ovarian Cancer SyndromeChromosome DuplicationAlgorithmsChromosome MappingPhenotypeGenotyping TechniquesChromosomes, HumanPolymerase Chain ReactionIn Situ Hybridization, FluorescenceChromosome AberrationsGene Deletion46, XX Disorders of Sex DevelopmentChromosomes, MammalianAllelesExomeBase SequenceAutistic DisorderChromosomes, Artificial, BacterialGenetics, PopulationHapMap ProjectHaplotypesChromosomes, Human, Pair 16INDEL MutationHigh-Throughput Nucleotide SequencingGene AmplificationAsian Continental Ancestry GroupNucleic Acid HybridizationModels, GeneticDatabases, GeneticReproducibility of ResultsGenetic Association StudiesEvolution, MolecularChromosome DeletionNucleic Acid Amplification TechniquesGene FrequencyMolecular Sequence DataSoftwareGene Expression ProfilingCase-Control StudiesMarkov ChainsPedigreeMutationSequence DeletionInheritance PatternsHypertrichosisSmith-Magenis SyndromePseudogenesComplement C4abeta-DefensinsChromosomes, Human, Pair 1Blotting, SouthwesternChromosomes, Human, Pair 22Polymorphism, GeneticSpecies SpecificityGenes, NeoplasmChromosomes, Human, XMicroarray AnalysisPan troglodytesEuropean Continental Ancestry GroupPhylogenyChromosomes, Human, Pair 7DNAGenetic TestingComputational BiologyTetraploidyChromosomes, Human, Pair 2Chromosome BreakageExonsNeurocutaneous SyndromesLinkage DisequilibriumSteroid 21-HydroxylaseCluster AnalysisAneuploidyReal-Time Polymerase Chain ReactionChromosomes, Human, Pair 6Adenomatoid TumorDNA, NeoplasmIntellectual DisabilityLoss of HeterozygosityGenomic InstabilityComplement C3b Inactivator ProteinsDevelopmental DisabilitiesDNA Probes