Journal Article10.1126/SCIENCE.1098918
Large-Scale Copy Number Polymorphism in the Human Genome
Jonathan Sebat,B. Lakshmi,Jennifer Troge,Joan Alexander,Janet M. Young,Pär Lundin,Susanne Månér,Hillary Massa,Megan Walker,Maoyen Chi,Nicholas Navin,Robert Lucito,John Healy,James W. Hicks,Kenny Q. Ye,Andrew Reiner,T. Conrad Gilliam,Barbara J. Trask,Nick Patterson,Anders Zetterberg,Michael Wigler +20 more
TL;DR: It is shown that large-scale copy number polymorphisms (CNPs) (about 100 kilobases and greater) contribute substantially to genomic variation between normal humans.
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Abstract: The extent to which large duplications and deletions contribute to human genetic variation and diversity is unknown. Here, we show that large-scale copy number polymorphisms (CNPs) (about 100 kilobases and greater) contribute substantially to genomic variation between normal humans. Representational oligonucleotide microarray analysis of 20 individuals revealed a total of 221 copy number differences representing 76 unique CNPs. On average, individuals differed by 11 CNPs, and the average length of a CNP interval was 465 kilobases. We observed copy number variation of 70 different genes within CNP intervals, including genes involved in neurological function, regulation of cell growth, regulation of metabolism, and several genes known to be associated with disease.
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•Journal Article
Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions
Katharina Steinmann,Lan Kluwe,David Neil Cooper,Hilde Brems,Thomas De Raedt,Eric Legius,Victor-F. Mautner,Hildegard Kehrer-Sawatzki +7 more
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Association Between Copy Number Variations of TLR7 and Ocular Behcet's Disease in a Chinese Han Population
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TL;DR: Evidence that a high copy number of TLR7 confers risk for BD in a Chinese Han population is provided, providing evidence that gene copy number variations of Toll-like receptors are associated with uveitis.
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TL;DR: Current advances in array-based technology have increased the resolution in detecting submicroscopic deletions and duplications, referred to as copy-number variations, which will provide an opportunity to search for genes causing or contributing to ASDs but also to understand the genetics of ASD.
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'Omics' Approaches to Understanding Interstitial Cystitis/Painful Bladder Syndrome/Bladder Pain Syndrome
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Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport
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TL;DR: Homology to the Saccharomyces cerevisiae VPS13 protein suggests a role for COH1 in vesicle-mediated sorting and transport of proteins within the cell, and refined the critical region on chromosome 8q22 by haplotype analysis, reports the characterization of a novel gene,COH1, that is mutated in patients with Cohen syndrome.
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