Detection of large-scale variation in the human genome.

by: AJ Iafrate, L Feuk, MN Rivera, ML Listewnik, PK Donahoe, Y Qi, SW Scherer, C Lee

Nat Genet, Vol. 36, No. 9. (September 2004), pp. 949-951.

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Abstract

We identified 255 loci across the human genome that contain genomic imbalances among unrelated individuals. Twenty-four variants are present in > 10% of the individuals that we examined. Half of these regions overlap with genes, and many coincide with segmental duplications or gaps in the human genome assembly. This previously unappreciated heterogeneity may underlie certain human phenotypic variation and susceptibility to disease and argues for a more dynamic human genome structure.

@article{citeulike:838946, abstract = {We identified 255 loci across the human genome that contain genomic imbalances among unrelated individuals. Twenty-four variants are present in > 10\% of the individuals that we examined. Half of these regions overlap with genes, and many coincide with segmental duplications or gaps in the human genome assembly. This previously unappreciated heterogeneity may underlie certain human phenotypic variation and susceptibility to disease and argues for a more dynamic human genome structure.}, address = {Department of Pathology, Brigham and Women's Hospital, 20 Shattuck St., Thorn 6-28, Boston, Massachusetts 02115, USA.}, author = {Iafrate, A. J. and Feuk, L. and Rivera, M. N. and Listewnik, M. L. and Donahoe, P. K. and Qi, Y. and Scherer, S. W. and Lee, C. }, citeulike-article-id = {838946}, doi = {http://dx.doi.org/10.1038/ng1416}, issn = {1061-4036}, journal = {Nat Genet}, keywords = {acgh, duplication, genome-wide, human, variation}, month = {September}, number = {9}, pages = {949--951}, posted-at = {2008-04-14 12:49:15}, priority = {0}, title = {Detection of large-scale variation in the human genome.}, url = {http://dx.doi.org/10.1038/ng1416}, volume = {36}, year = {2004} }

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TY - JOUR ID - citeulike:838946 L3 - citeulike-article-id:838946 N2 - We identified 255 loci across the human genome that contain genomic imbalances among unrelated individuals. Twenty-four variants are present in > 10% of the individuals that we examined. Half of these regions overlap with genes, and many coincide with segmental duplications or gaps in the human genome assembly. This previously unappreciated heterogeneity may underlie certain human phenotypic variation and susceptibility to disease and argues for a more dynamic human genome structure. IS - 9 JF - Nat Genet SN - 1061-4036 AD - Department of Pathology, Brigham and Women's Hospital, 20 Shattuck St., Thorn 6-28, Boston, Massachusetts 02115, USA. EP - 951 TI - Detection of large-scale variation in the human genome. VL - 36 SP - 949 KW - acgh KW - duplication KW - genome-wide KW - human KW - variation AU - Iafrate, AJ AU - Feuk, L AU - Rivera, MN AU - Listewnik, ML AU - Donahoe, PK AU - Qi, Y AU - Scherer, SW AU - Lee, C PY - 2004/09// UR - http://dx.doi.org/10.1038/ng1416 ER -

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