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Bioinformatics

2008

COBRA Preprint Series

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Detection Of Recurrent Copy Number Alterations In The Genome: A Probabilistic Approach, Oscar M. Rueda, Ramon Diaz-Uriarte Nov 2008

Detection Of Recurrent Copy Number Alterations In The Genome: A Probabilistic Approach, Oscar M. Rueda, Ramon Diaz-Uriarte

COBRA Preprint Series

Copy number variation (CNV) in genomic DNA is linked to a variety of human diseases (including cancer, HIV acquisition, autoimmune and neurodegenerative diseases), and array-based CGH (aCGH) is currently the main technology to locate CNVs. Several methods can analyze aCGH data at the single sample level, but disease-critical genes are more likely to be found in regions that are common or recurrent among samples. Unfortunately, defining recurrent CNV regions remains a challenge. Moreover, the heterogeneous nature of many diseases requires that we search for CNVs that affect only some subsets of the samples (without prior knowledge of which regions and …


Finding Recurrent Regions Of Copy Number Variation: A Review, Oscar M. Rueda, Ramon Diaz-Uriarte Nov 2008

Finding Recurrent Regions Of Copy Number Variation: A Review, Oscar M. Rueda, Ramon Diaz-Uriarte

COBRA Preprint Series

Copy number variation (CNV) in genomic DNA is linked to a variety of human diseases, and array-based CGH (aCGH) is currently the main technology to locate CNVs. Although many methods have been developed to analyze aCGH from a single array/subject, disease-critical genes are more likely to be found in regions that are common or recurrent among subjects. Unfortunately, finding recurrent CNV regions remains a challenge. We review existing methods for the identification of recurrent CNV regions. The working definition of ``common'' or ``recurrent'' region differs between methods, leading to approaches that use different types of input (discretized output from a …


The Strength Of Statistical Evidence For Composite Hypotheses With An Application To Multiple Comparisons, David R. Bickel Nov 2008

The Strength Of Statistical Evidence For Composite Hypotheses With An Application To Multiple Comparisons, David R. Bickel

COBRA Preprint Series

The strength of the statistical evidence in a sample of data that favors one composite hypothesis over another may be quantified by the likelihood ratio using the parameter value consistent with each hypothesis that maximizes the likelihood function. Unlike the p-value and the Bayes factor, this measure of evidence is coherent in the sense that it cannot support a hypothesis over any hypothesis that it entails. Further, when comparing the hypothesis that the parameter lies outside a non-trivial interval to the hypotheses that it lies within the interval, the proposed measure of evidence almost always asymptotically favors the correct hypothesis …