The software is devoted to discover aberration in copy number (CNA) of genomic data. The CNA loci are found by applying a batch of significance test to data obtained by arrays of Comparative Genomic hybridization (aCGH) technology. The test statistic used is a sum of Bernoulli trials with different parameter. The sampling distribution of the test statistic under the null hypothesis is approximated by a shuffling scheme devised by the permutation test methodology. A further p-value corrections for multiple test allows to prevent from false discovery. The algorithm provide a good behavior both in real and synthetic data.

GAIA: an R/Bioconductor package for identification of significant genetic mutations from multiple samples

PAGNOTTA S;CECCARELLI M;
2010

Abstract

The software is devoted to discover aberration in copy number (CNA) of genomic data. The CNA loci are found by applying a batch of significance test to data obtained by arrays of Comparative Genomic hybridization (aCGH) technology. The test statistic used is a sum of Bernoulli trials with different parameter. The sampling distribution of the test statistic under the null hypothesis is approximated by a shuffling scheme devised by the permutation test methodology. A further p-value corrections for multiple test allows to prevent from false discovery. The algorithm provide a good behavior both in real and synthetic data.
Copy number aberration discovery; computational inference
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.12070/14801
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