Title
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On the spot : very local chromosomal rearrangements
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Author
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Abstract
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Over the last decade, the detection of chromosomal abnormalities has shifted from conventional karyotyping under a light microscope to molecular detection using microarrays. The latter technology identified copy number variation as a major source of variation in the human genome; moreover, copy number variants were found responsible for 10-20% of cases of intellectual disability. Recent technological advances in microarray technology have also enabled the detection of very small local chromosomal rearrangements, sometimes affecting the function of only a single gene. Here, we illustrate how high resolution microarray analysis has led to increased insights into the contribution of specific genes in disease. |
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Language
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English
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Source (journal)
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F1000 biology reports. - London, 2009, currens
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Publication
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London
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Faculty of 1000
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2012
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ISSN
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1757-594X
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DOI
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10.3410/B4-22
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Volume/pages
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4
(2012)
, 6 p.
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Article Reference
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22
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Medium
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E-only publicatie
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Full text (Publisher's DOI)
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Full text (publisher's version - intranet only)
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