Detection of large-scale variation in the human genome. Export

@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. John and Feuk, Lars and Rivera, Miguel N. and Listewnik, Marc L. and Donahoe, Patricia K. and Qi, Ying and Scherer, Stephen W. and Lee, Charles}, citeulike-article-id = {838946}, citeulike-linkout-0 = {http://dx.doi.org/10.1038/ng1416}, citeulike-linkout-1 = {http://dx.doi.org/10.1038/ng1416}, citeulike-linkout-2 = {http://view.ncbi.nlm.nih.gov/pubmed/15286789}, citeulike-linkout-3 = {http://www.hubmed.org/display.cgi?uids=15286789}, doi = {10.1038/ng1416}, issn = {1061-4036}, journal = {Nature genetics}, keywords = {cnv, global, segmental\_duplications}, month = {September}, number = {9}, pages = {949--951}, posted-at = {2008-10-06 15:42:04}, priority = {2}, title = {Detection of large-scale variation in the human genome.}, url = {http://dx.doi.org/10.1038/ng1416}, volume = {36}, year = {2004} }

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 - Nature genetics 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 - cnv KW - global KW - segmental_duplications AU - Iafrate, John AU - Feuk, Lars AU - Rivera, Miguel AU - Listewnik, Marc AU - Donahoe, Patricia AU - Qi, Ying AU - Scherer, Stephen AU - Lee, Charles PY - 2004/09// UR - http://dx.doi.org/10.1038/ng1416 ER -