A PIPELINE TO ASSESS DISEASE-ASSOCIATED HAPLOTYPES IN REPEAT EXPANSION DISORDERS: THE EXAMPLE OF MJD/SCA3 LOCUS

A Pipeline to Assess Disease-Associated Haplotypes in Repeat Expansion Disorders: The Example of MJD/SCA3 Locus

At least 40 human diseases are associated with repeat expansions; yet, the mutational origin and instability mechanisms remain unknown for most of them.Previously, genetic epidemiology and predisposing backgrounds for the instability of some expanding loci have been studied in different populations through the analysis of diversity flanking the res

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Report on emerging technologies for translational bioinformatics: a symposium on gene expression profiling for archival tissues

Abstract Background With over 20 million formalin-fixed, paraffin-embedded (FFPE) tissue samples archived each year in the United States alone, archival tissues remain a vast and under-utilized resource in the genomic study of cancer.Technologies have recently been introduced for whole-transcriptome amplification and microarray analysis of degraded

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The Jesuits in Portugal: the communion of science and religion

For several centuries, the dichotomy between science and religion widened, so much so that these were considered two opposing fields of knowledge.On one side, stood the defenders of rationality, and on the other, obscurantism.Following the anti-Jew myth, with the Enlightenment, the anti-Jesuit myth emerged.This myth started to gain red pygmy dogwoo

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