Genes, DominantGenetic Diseases, InbornDiseaseGenetic LinkagePedigreeChromosome MappingGenetic MarkersMutationLod ScorePhenotypeGenetic Predisposition to DiseaseGenes, RecessiveDatabases, GeneticGenome, HumanHepatolenticular DegenerationHuntington DiseaseHaplotypesComputational BiologyAllelesLinkage DisequilibriumModels, GeneticMolecular Sequence DataExomeDNA Mutational AnalysisGenetic HeterogeneityProtein Interaction MapsProtein Interaction MappingGene Regulatory NetworksGenotypeConsanguinityBase SequenceChromosomes, Human, Pair 4Machado-Joseph DiseasePolymorphism, Single NucleotideGenetics, MedicalGenetic TestingMutation, MissenseGenetic StructuresAlgorithmsGenome-Wide Association StudyHeterozygoteChromosomes, Human, Pair 16PenetranceGenesHomozygoteMenkes Kinky Hair SyndromeGenetic Association StudiesRetinitis PigmentosaNerve Tissue ProteinsExonsProteinsSequence Analysis, DNAPolycystic Kidney DiseasesGene Expression ProfilingGenes, EssentialGene FrequencySoftwareTrinucleotide RepeatsMicrosatellite RepeatsChromosomes, Human, Pair 5SynostosisFounder EffectEye ProteinsTrinucleotide Repeat ExpansionChromosomes, Human, Pair 1GenomicsChromosomes, Human, XPolymorphism, GeneticX ChromosomeSyndromeNeuronal Ceroid-LipofuscinosesRetinal DiseasesGenetic VariationPolymerase Chain ReactionChromosomes, Human, Pair 3Darier DiseaseFamily HealthNeuromuscular DiseasesMultifactorial InheritanceEye Diseases, HereditaryDrug RepositioningKidney Diseases, CysticHeterozygote DetectionChromosomes, Human, Pair 2Polymorphism, Restriction Fragment LengthNuclear ProteinsPoint MutationAge of OnsetChromosomes, Human, Pair 20OsteochondrodysplasiasMuscular Atrophy, SpinalChromosomes, Human, Pair 12Frameshift MutationCloning, MolecularPhysical Chromosome MappingMitochondrial DiseasesEvolution, MolecularTRPP Cation ChannelsGenes, LethalSerial Publications