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Journal article

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

Abstract:

Genomic disorders are characterized by the presence of flanking segmental duplications that predispose these regions to recurrent rearrangement. Based on the duplication architecture of the genome, we investigated 130 regions that we hypothesized as candidates for previously undescribed genomic disorders. We tested 290 individuals with mental retardation by BAC array comparative genomic hybridization and identified 16 pathogenic rearrangements, including de novo microdeletions of 17q21.31 fou...

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Publisher copy:
10.1038/ng1862

Authors


Selzer, RR More by this author
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Journal:
Nature genetics
Volume:
38
Issue:
9
Pages:
1038-1042
Publication date:
2006-09-05
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
URN:
uuid:d1d18d16-b67c-4551-a6f6-2ed43e14b7a8
Source identifiers:
94799
Local pid:
pubs:94799

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