title: Human genome variation in health and in neuropsychiatric disorders.
abstract: OBJECTIVE
  Variation in the human genome may explain genetic contributions to complex traits and common diseases.
  
  
  RESULTS
  Until recently, single nucleotide polymorphisms were thought to be the most prevalent form of interindividual genetic variation. However, structural genomic rearrangements such as deletions, duplications, and inversions lead to variation in gene copy number and contribute even more to genomic diversity. Other sources of genomic variation include noncoding genes, pseudogenes, and mobile genetic elements (transposons).
  
  
  CONCLUSIONS
  Genome dynamics, including changes in gene number and position as well as epigenetic modifications of coding and noncoding sequences, can affect regulation of gene expression and may contribute to the variability of complex phenotypes.
authors.affiliation: Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Croatia. alena@medri.hr
authors.forename: Alena
authors.initials: A
authors.lastname: Buretić-Tomljanović
authors.forename: Drasko
authors.initials: D
authors.lastname: Tomljanović
mesh_terms: D002872:Chromosome Deletion; D007446:Chromosome Inversion / Q000235:genetics; D056915:DNA Copy Number Variations; D004251:DNA Transposable Elements / Q000235:genetics; D044127:Epigenesis, Genetic / Q000235:genetics; D020440:Gene Duplication; D005786:Gene Expression Regulation / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D015894:Genome, Human / Q000235:genetics*; D056914:Genomic Structural Variation / Q000235:genetics*; D006801:Humans; D020071:Interspersed Repetitive Sequences / Q000235:genetics; D007438:Introns / Q000235:genetics; D001523:Mental Disorders / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011544:Pseudogenes / Q000235:genetics; D022661:RNA, Untranslated / Q000235:genetics
chemical_list: D004251:DNA Transposable Elements; D022661:RNA, Untranslated