title: Fine-scale structural variation of the human genome.
abstract: Inversions, deletions and insertions are important mediators of disease and disease susceptibility. We systematically compared the human genome reference sequence with a second genome (represented by fosmid paired-end sequences) to detect intermediate-sized structural variants >8 kb in length. We identified 297 sites of structural variation: 139 insertions, 102 deletions and 56 inversion breakpoints. Using combined literature, sequence and experimental analyses, we validated 112 of the structural variants, including several that are of biomedical relevance. These data provide a fine-scale structural variation map of the human genome and the requisite sequence precision for subsequent genetic studies of human disease.
authors.affiliation: Department of Genome Sciences, University of Washington School of Medicine, 1705 NE Pacific Street, Seattle, Washington 98195, USA. eee@gs.washington.edu
authors.forename: Eray
authors.initials: E
authors.lastname: Tuzun
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Sharp
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Bailey
authors.forename: Rajinder
authors.initials: R
authors.lastname: Kaul
authors.forename: V Anne
authors.initials: VA
authors.lastname: Morrison
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Pertz
authors.forename: Eric
authors.initials: E
authors.lastname: Haugen
authors.forename: Hillary
authors.initials: H
authors.lastname: Hayden
authors.forename: Donna
authors.initials: D
authors.lastname: Albertson
authors.forename: Daniel
authors.initials: D
authors.lastname: Pinkel
authors.forename: Maynard V
authors.initials: MV
authors.lastname: Olson
authors.forename: Evan E
authors.initials: EE
authors.lastname: Eichler
mesh_terms: D020029:Base Pairing; D045744:Cell Line, Tumor; D019295:Computational Biology; D015894:Genome, Human; D042822:Genomic Instability; D006801:Humans; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D011110:Polymorphism, Genetic; D012016:Reference Values; D017422:Sequence Analysis, DNA