Fine-scale structural variation of the human genome

by: E Tuzun, AJ Sharp, JA Bailey, R Kaul, VA Morrison, LM Pertz, E Haugen, H Hayden, D Albertson, D Pinkel, MV Olson, EE Eichler

Nat Genet, Vol. 37, No. 7. (2005), pp. 727-732.

View FullText article

No URLs defined

Reviews [Write a review of this article]

There are no reviews of this article

Find related articles from these CiteULike users

aprasad, ccots

Find related articles with these CiteULike tags

functional, genetic, human_genome, indel, variation, whole_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.

@article{tuzun05, 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 = {Tuzun, E. and Sharp, A. J. and Bailey, J. A. and Kaul, R. and Morrison, V. A. and Pertz, L. M. and Haugen, E. and Hayden, H. and Albertson, D. and Pinkel, D. and Olson, M. V. and Eichler, E. E. }, citeulike-article-id = {499561}, journal = {Nat Genet}, keywords = {functional, human\_genome, variation, whole\_genome}, number = {7}, pages = {727--732}, posted-at = {2006-03-31 00:35:43}, priority = {2}, title = {Fine-scale structural variation of the human genome}, volume = {37}, year = {2005} }

RIS record

TY - JOUR ID - tuzun05 L3 - citeulike-article-id:499561 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. IS - 7 JF - Nat Genet EP - 732 TI - Fine-scale structural variation of the human genome VL - 37 SP - 727 KW - functional KW - human_genome KW - variation KW - whole_genome AU - Tuzun, E AU - Sharp, AJ AU - Bailey, JA AU - Kaul, R AU - Morrison, VA AU - Pertz, LM AU - Haugen, E AU - Hayden, H AU - Albertson, D AU - Pinkel, D AU - Olson, MV AU - Eichler, EE PY - 2005/// ER -

RIS BibTeX