Fine-scale structural variation of the human genome

Eray Tuzun; Andrew J. Sharp; Jeffrey A. Bailey; Rajinder Kaul; V. Anne Morrison; Lisa M. Pertz; Eric Haugen; Hillary Hayden; Donna Albertson; Daniel Pinkel; Maynard V. Olson; Evan E. Eichler

doi:10.1038/ng1562

Fine-scale structural variation of the human genome

Eray Tuzun, Andrew J. Sharp, Jeffrey A. Bailey, Rajinder Kaul, V. Anne Morrison, Lisa M. Pertz, Eric Haugen, Hillary Hayden, Donna Albertson, Daniel Pinkel, Maynard V. Olson, Evan E. Eichler

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Research output: Contribution to journal › Article › peer-review

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.

Original language	English (US)
Pages (from-to)	727-732
Number of pages	6
Journal	Nature Genetics
Volume	37
Issue number	7
DOIs	https://doi.org/10.1038/ng1562
State	Published - 2005

ASJC Scopus subject areas

Genetics

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10.1038/ng1562

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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.",

author = "Eray Tuzun and Sharp, {Andrew J.} and Bailey, {Jeffrey A.} and Rajinder Kaul and Morrison, {V. Anne} and Pertz, {Lisa M.} and Eric Haugen and Hillary Hayden and Donna Albertson and Daniel Pinkel and Olson, {Maynard V.} and Eichler, {Evan E.}",

note = "Funding Information: We thank C. Alkan, J. Sprague, C. Gulden, D. Locke, S. McGrath and Z. Cheng for technical assistance and A. Chakravarti and B. Waterston for comments. This work was supported, in part, by a grant from the US National Institutes of Health to E.E.E.",

year = "2005",

doi = "10.1038/ng1562",

language = "English (US)",

volume = "37",

pages = "727--732",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

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T1 - Fine-scale structural variation of the human genome

AU - Tuzun, Eray

AU - Sharp, Andrew J.

AU - Bailey, Jeffrey A.

AU - Kaul, Rajinder

AU - Morrison, V. Anne

AU - Pertz, Lisa M.

AU - Haugen, Eric

AU - Hayden, Hillary

AU - Albertson, Donna

AU - Pinkel, Daniel

AU - Olson, Maynard V.

AU - Eichler, Evan E.

N1 - Funding Information: We thank C. Alkan, J. Sprague, C. Gulden, D. Locke, S. McGrath and Z. Cheng for technical assistance and A. Chakravarti and B. Waterston for comments. This work was supported, in part, by a grant from the US National Institutes of Health to E.E.E.

PY - 2005

Y1 - 2005

N2 - 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.

AB - 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.

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Fine-scale structural variation of the human genome

Abstract

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