Article
Fine-scale structural variation of the human genome.
Nature genetics - 1 Jul 2005
Tuzun Eray, Sharp Andrew J, Bailey Jeffrey A, Kaul Rajinder, Morrison V Anne, Pertz Lisa M, Haugen Eric, Hayden Hillary, Albertson Donna, Pinkel Daniel, Olson Maynard V, Eichler Evan E
Abstract excerpt
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...
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