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- W4247993348 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. PMID: 15895083" @default.
- W4247993348 created "2022-05-12" @default.
- W4247993348 creator A5071502405 @default.
- W4247993348 date "2005-07-23" @default.
- W4247993348 modified "2023-09-26" @default.
- W4247993348 title "Faculty Opinions recommendation of Fine-scale structural variation of the human genome." @default.
- W4247993348 doi "https://doi.org/10.3410/f.1025956.326529" @default.
- W4247993348 hasPublicationYear "2005" @default.
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