Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease.
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ABSTRACT:
SUBMITTER: Vahteristo P
PROVIDER: S-EPMC2752178 | biostudies-literature | 2007 Nov
REPOSITORIES: biostudies-literature
Publications
Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease.
Vahteristo P P Kokko A A Saksela O O Aittomäki K K Aaltonen L A LA
Journal of medical genetics 20070727 11
Identification of new disease predisposition genes with chip-based technologies typically requires extensive financial and sample resources. We have recently shown that combining peripheral blood genome and transcriptome (BGT) information in highly selected materials can be a successful low-cost approach to unravelling dominant tumour susceptibility. In this study, we extended our investigations to recessively inherited tumour predisposition, and identified a homozygous germline mutation in the ...[more]
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