Method of detecting a mutational signature in a sample

Method of detecting a mutational signature in a sample

The present invention provides a method of detecting mutational signatures in a DNA sample. The invention relates to method of detecting signatures arising from rearrangements in the DNA in the sample and determining the contributions of known rearrangement signatures to said rearrangements. In part...

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Hauptverfasser: Glodzik, Dominik, Nik-Zainal, Serena, Stratton, Mike
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Sprache:eng
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INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS
PHYSICS
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creator Glodzik, Dominik
Nik-Zainal, Serena
Stratton, Mike
description The present invention provides a method of detecting mutational signatures in a DNA sample. The invention relates to method of detecting signatures arising from rearrangements in the DNA in the sample and determining the contributions of known rearrangement signatures to said rearrangements. In particular embodiments, the contributions are determined by computing the cosine similarity between the rearrangement mutations in said catalogue and the rearrangement mutational signatures. The rearrangement signatures are classified based on whether they are clustered or not, whether they are tandem duplications, deletions, inversions or translocations and on the basis of their size.
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The invention relates to method of detecting signatures arising from rearrangements in the DNA in the sample and determining the contributions of known rearrangement signatures to said rearrangements. In particular embodiments, the contributions are determined by computing the cosine similarity between the rearrangement mutations in said catalogue and the rearrangement mutational signatures. 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subjects INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS
PHYSICS
title Method of detecting a mutational signature in a sample
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