Detection of large-scale variation in the human genome.
paper
Cited
Public
Unavailable
- Authors
- Iafrate, A John; Feuk, Lars; Rivera, Miguel N; Listewnik, Marc L; Donahoe, Patricia K; Qi, Ying; Scherer, Stephen W; Lee, Charles
- Year
- 2004
- Journal
- Nature genetics
- PMID
- 15286789
- DOI
- 10.1038/ng1416
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.
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| Copy number variation in potato - an asexually propagated autotetraploid species. | Iovene M et al. | β | 2013 | β |
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| Cytogenetic evaluation: a primer for pediatric nurse practitioners. | Zaslav AL et al. | β | 2013 | β |
| Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans. | Symoens S et al. | β | 2013 | β |
| Detection and interpretation of genomic structural variation in health and disease. | Vandeweyer G et al. | β | 2013 | β |
| Detection of copy number variation and single nucleotide polymorphisms in genes involved in drug resistance and other phenotypic traits in P. falciparum clinical isolates collected from Uganda. | Kiwuwa MS et al. | β | 2013 | β |
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| Discovery of structural alterations in solid tumor oligodendroglioma by single molecule analysis. | Ray M et al. | β | 2013 | β |
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| Chapter 6: Structural variation and medical genomics. | Raphael BJ | β | 2012 | β |
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| Copy number variations involving the microtubule-associated protein tau in human diseases. | Rovelet-Lecrux A et al. | β | 2012 | β |
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| Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment. | Gemenetzi M et al. | β | 2012 | β |
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| Defining molecular and cellular responses after low and high linear energy transfer radiations to develop biomarkers of carcinogenic risk or therapeutic outcome. | Story M et al. | β | 2012 | β |
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| Detection of chromosomal alterations in the circulation of cancer patients with whole-genome sequencing. | Leary RJ et al. | β | 2012 | β |
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| Extensive genetic diversity and substructuring among zebrafish strains revealed through copy number variant analysis. | Brown KH et al. | β | 2012 | β |
| forestSV: structural variant discovery through statistical learning. | Michaelson JJ et al. | β | 2012 | β |
| FOSL1 as a candidate target gene for 11q12 rearrangements in desmoplastic fibroblastoma. | Macchia G et al. | β | 2012 | β |
| From markers to molecular mechanisms: type 1 diabetes in the post-GWAS era. | Baxter AG et al. | β | 2012 | β |
| Functional analysis of HapMap SNPs. | Liu CT et al. | β | 2012 | β |
| Genes with bimodal expression are robust diagnostic targets that define distinct subtypes of epithelial ovarian cancer with different overall survival. | Kernagis DN et al. | β | 2012 | β |
| Gene-targeted analysis of copy number variants identifies 3 novel associations with coronary heart disease traits. | Costelloe SJ et al. | β | 2012 | β |
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| Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly. | Lam ET et al. | β | 2012 | β |
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| Genome-wide CNV analysis replicates the association between GSTM1 deletion and bladder cancer: a support for using continuous measurement from SNP-array data. | Marenne G et al. | β | 2012 | β |
| Genome-wide high-resolution aCGH analysis of gestational choriocarcinomas. | Poaty H et al. | β | 2012 | β |
| Genome-wide identification of structural variants in genes encoding drug targets: possible implications for individualized drug therapy. | Rasmussen HB et al. | β | 2012 | β |
| Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder. | Hooper SD et al. | β | 2012 | β |
| Genomic analysis of circulating cell-free DNA infers breast cancer dormancy. | Shaw JA et al. | β | 2012 | β |
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| Genomics, intellectual disability, and autism. | Mefford HC et al. | β | 2012 | β |
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| GREVE: Genomic Recurrent Event ViEwer to assist the identification of patterns across individual cancer samples. | Cazier JB et al. | β | 2012 | β |
| Heterozygous deletion of NR1 subunit of the NMDA receptor alters ethanol-related behaviors and regional expression of NR2 subunits in the brain. | Du X et al. | β | 2012 | β |
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| Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia. | Simioni M et al. | β | 2012 | β |
| Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies. | Willemsen MH et al. | β | 2012 | β |
| Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect. | Brown SJ et al. | β | 2012 | β |
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| No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity. | Izzi B et al. | β | 2012 | β |
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