Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease
Tài liệu tham khảo
Iafrate, 2004, Detection of large-scale variation in the human genome, Nat. Genet., 36, 949, 10.1038/ng1416
Redon, 2006, Global variation in copy number in the human genome, Nature, 444, 444, 10.1038/nature05329
Sebat, 2004, Large-scale copy number polymorphism in the human genome, Science, 305, 525, 10.1126/science.1098918
Sharp, 2005, Segmental duplications and copy-number variation in the human genome, Am. J. Hum. Genet., 77, 78, 10.1086/431652
Tuzun, 2005, Fine-scale structural variation of the human genome, Nat. Genet., 37, 727, 10.1038/ng1562
Feuk, 2006, Structural variation in the human genome, Nat. Rev. Genet., 7, 85, 10.1038/nrg1767
Cooper, 2007, Mutational and selective effects on copy-number variants in the human genome, Nat. Genet., 39, S22, 10.1038/ng2054
Trask, 1998, Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome, Hum. Mol. Genet., 7, 2007, 10.1093/hmg/7.13.2007
Nguyen, 2006, Bias of selection on human copy-number variants, PLoS Genet, 2, e20, 10.1371/journal.pgen.0020020
Gonzalez, 2005, The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility, Science, 307, 1434, 10.1126/science.1101160
Fellermann, 2006, A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon, Am. J. Hum. Genet., 79, 439, 10.1086/505915
Aitman, 2006, Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans, Nature, 439, 851, 10.1038/nature04489
Stankiewicz, 2002, Genome architecture, rearrangements and genomic disorders, Trends Genet., 18, 74, 10.1016/S0168-9525(02)02592-1
Christian, 1999, Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13), Hum. Mol. Genet., 8, 1025, 10.1093/hmg/8.6.1025
Ballif, 2007, Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2, Nat. Genet., 39, 1071, 10.1038/ng2107
Slavotinek, 2008, Novel microdeletion syndromes detected by chromosome microarrays, Hum. Genet., 124, 1, 10.1007/s00439-008-0513-9
Sharp, 2007, Characterization of a recurrent 15q24 microdeletion syndrome, Hum. Mol. Genet., 16, 567, 10.1093/hmg/ddm016
Mefford, 2007, Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy, Am. J. Hum. Genet., 81, 1057, 10.1086/522591
Weiss, 2008, Association between microdeletion and microduplication at 16p11.2 and autism, N. Engl. J. Med., 358, 667, 10.1056/NEJMoa075974
Sharp, 2008, A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures, Nat. Genet., 40, 322, 10.1038/ng.93
Mefford, 2008, Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes, N. Engl. J. Med., 359, 1685, 10.1056/NEJMoa0805384
Sebat, 2007, Strong association of de novo copy number mutations with autism, Science, 316, 445, 10.1126/science.1138659
2008, Rare chromosomal deletions and duplications increase risk of schizophrenia, Nature, 455, 237, 10.1038/nature07239
Walsh, 2008, Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia, Science, 320, 539, 10.1126/science.1155174
Stefansson, 2008, Large recurrent microdeletions associated with schizophrenia, Nature, 455, 232, 10.1038/nature07229
McCarroll, 2008, Integrated detection and population-genetic analysis of SNPs and copy number variation, Nat. Genet., 40, 1166, 10.1038/ng.238
Albert, 2001, Effect of statin therapy on C-reactive protein levels: the pravastatin inflammation/CRP evaluation (PRINCE): a randomized trial and cohort study, JAMA, 286, 64, 10.1001/jama.286.1.64
Simon, 2006, Phenotypic predictors of response to simvastatin therapy among African-Americans and Caucasians: the Cholesterol and Pharmacogenetics (CAP) Study, Am. J. Cardiol., 97, 843, 10.1016/j.amjcard.2005.09.134
Cann, 2002, A human genome diversity cell line panel, Science, 296, 261, 10.1126/science.296.5566.261b
Li, 2008, Worldwide human relationships inferred from genome-wide patterns of variation, Science, 319, 1100, 10.1126/science.1153717
Jakobsson, 2008, Genotype, haplotype and copy-number variation in worldwide human populations, Nature, 451, 998, 10.1038/nature06742
Rosenberg, 2006, Standardized subsets of the HGDP-CEPH Human Genome Diversity Cell Line Panel, accounting for atypical and duplicated samples and pairs of close relatives, Ann. Hum. Genet., 70, 841, 10.1111/j.1469-1809.2006.00285.x
Cooper, 2008, Systematic assessment of copy number variant detection via genome-wide SNP genotyping, Nat. Genet., 40, 1199, 10.1038/ng.236
Day, 2007, Unsupervised segmentation of continuous genomic data, Bioinformatics, 23, 1424, 10.1093/bioinformatics/btm096
Bailey, 2002, Recent segmental duplications in the human genome, Science, 297, 1003, 10.1126/science.1072047
Willatt, 2005, 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome, Am. J. Hum. Genet., 77, 154, 10.1086/431653
Korn, 2008, Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs, Nat. Genet., 40, 1253, 10.1038/ng.237
Simon-Sanchez, 2007, Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals, Hum. Mol. Genet., 16, 1, 10.1093/hmg/ddl436
McCarroll, 2006, Common deletion polymorphisms in the human genome, Nat. Genet., 38, 86, 10.1038/ng1696
Wang, 2007, PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data, Genome Res., 17, 1665, 10.1101/gr.6861907
Turner, 2008, Germline rates of de novo meiotic deletions and duplications causing several genomic disorders, Nat. Genet., 40, 90, 10.1038/ng.2007.40
Kidd, 2008, Mapping and sequencing of structural variation from eight human genomes, Nature, 453, 56, 10.1038/nature06862
Conrad, 2006, A high-resolution survey of deletion polymorphism in the human genome, Nat. Genet., 38, 75, 10.1038/ng1697
de Vries, 2005, Diagnostic genome profiling in mental retardation, Am. J. Hum. Genet., 77, 606, 10.1086/491719
Szatmari, 2007, Mapping autism risk loci using genetic linkage and chromosomal rearrangements, Nat. Genet., 39, 319, 10.1038/ng1985
Christian, 2008, Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder, Biol. Psychiatry, 63, 1111, 10.1016/j.biopsych.2008.01.009
Marshall, 2008, Structural variation of chromosomes in autism spectrum disorder, Am. J. Hum. Genet., 82, 477, 10.1016/j.ajhg.2007.12.009
Xu, 2008, Strong association of de novo copy number mutations with sporadic schizophrenia, Nat. Genet., 40, 880, 10.1038/ng.162
Kumar, 2008, Recurrent 16p11.2 microdeletions in autism, Hum. Mol. Genet., 17, 628, 10.1093/hmg/ddm376
McDermid, 2002, Genomic disorders on 22q11, Am. J. Hum. Genet., 70, 1077, 10.1086/340363
Lupski, 2005, Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes, PLoS Genet, 1, e49, 10.1371/journal.pgen.0010049
Wagenstaller, 2007, Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation, Am. J. Hum. Genet., 81, 768, 10.1086/521274
Zody, 2008, Evolutionary toggling of the MAPT 17q21.31 inversion region, Nat. Genet., 10.1038/ng.193
Antshel, 2007, Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion), J. Autism Dev. Disord., 37, 1776, 10.1007/s10803-006-0308-6
Ben-Shachar, 2008, 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome, Am. J. Hum. Genet., 82, 214, 10.1016/j.ajhg.2007.09.014
Hannes, 2008, Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant, J. Med. Genet.