title: Child development and structural variation in the human genome.
abstract: Structural variation of the human genome sequence is the insertion, deletion, or rearrangement of stretches of DNA sequence sized from around 1,000 to millions of base pairs. Over the past few years, structural variation has been shown to be far more common in human genomes than previously thought. Very little is currently known about the effects of structural variation on normal child development, but such effects could be of considerable significance. This review provides an overview of the phenomenon of structural variation in the human genome sequence, describing the novel genomics technologies that are revolutionizing the way structural variation is studied and giving examples of genomic structural variations that affect child development.
authors: Yale University.
authors: Ying
authors: Y
authors: Zhang
authors: Rajini
authors: R
authors: Haraksingh
authors: Fabian
authors: F
authors: Grubert
authors: Alexej
authors: A
authors: Abyzov
authors: Mark
authors: M
authors: Gerstein
authors: Sherman
authors: S
authors: Weissman
authors: Alexander E
authors: AE
authors: Urban
mesh_terms: D002648:Child; D056915:DNA Copy Number Variations; D004261:DNA Replication / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics*; D020440:Gene Duplication / Q000235:genetics; D015321:Gene Rearrangement / Q000235:genetics; D015894:Genome, Human / Q000235:genetics; D056914:Genomic Structural Variation / Q000235:genetics*; D006801:Humans; D011995:Recombination, Genetic / Q000235:genetics; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion / Q000235:genetics; D057345:Sequence Inversion / Q000235:genetics