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Testing clonal relatedness of two tumors from the same patient based on their mutational profiles: update of the Clonality R package.

ABSTRACT: SUMMARY:The Clonality R package is a practical tool to assess the clonal relatedness of two tumors from the same patient. We have previously presented its functionality for testing tumors using loss of heterozygosity data or copy number arrays. Since then somatic mutation data have been more widely available through next generation sequencing and we have developed new methodology for comparing the tumors' mutational profiles. We thus extended the package to include these two new methods for comparing tumors as well as the mutational frequency estimation from external data required for their implementation. The first method is a likelihood ratio test that is readily available on a patient by patient basis. The second method employs a random-effects model to estimate both the population and individual probabilities of clonal relatedness from a group of patients with pairs of tumors. The package is available on Bioconductor. AVAILABILITY AND IMPLEMENTATION:Bioconductor (http://bioconductor.org/packages/release/bioc/html/Clonality.html). SUPPLEMENTARY INFORMATION:Supplementary data are available at Bioinformatics online.

SUBMITTER: Mauguen A

PROVIDER: S-EPMC6853680 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature

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Testing clonal relatedness of two tumors from the same patient based on their mutational profiles: update of the Clonality R package.

Mauguen Audrey A Seshan Venkatraman E VE Begg Colin B CB Ostrovnaya Irina I

Bioinformatics (Oxford, England) 20191101 22

<h4>Summary</h4>The Clonality R package is a practical tool to assess the clonal relatedness of two tumors from the same patient. We have previously presented its functionality for testing tumors using loss of heterozygosity data or copy number arrays. Since then somatic mutation data have been more widely available through next generation sequencing and we have developed new methodology for comparing the tumors' mutational profiles. We thus extended the package to include these two new methods ...[more]

PMID: 31198957

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Dataset Information

Testing clonal relatedness of two tumors from the same patient based on their mutational profiles: update of the Clonality R package.

Publications

Testing clonal relatedness of two tumors from the same patient based on their mutational profiles: update of the Clonality R package.

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