CA3021737C - Procede de detection d'une signature mutationnelle dans un echantillon - Google Patents

Procede de detection d'une signature mutationnelle dans un echantillon

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Publication number
CA3021737C
CA3021737C CA3021737A CA3021737A CA3021737C CA 3021737 C CA3021737 C CA 3021737C CA 3021737 A CA3021737 A CA 3021737A CA 3021737 A CA3021737 A CA 3021737A CA 3021737 C CA3021737 C CA 3021737C
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CA
Canada
Prior art keywords
rearrangement
mutations
catalogue
signatures
sample
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Active
Application number
CA3021737A
Other languages
English (en)
Other versions
CA3021737A1 (fr
Inventor
Serena NIK-ZAINAL
Mike Stratton
Dominik GLODZIK
Original Assignee
Genome Research Ltd
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Publication date
Priority claimed from GB1607628.3A external-priority patent/GB2555765A/en
Application filed by Genome Research Ltd filed Critical Genome Research Ltd
Publication of CA3021737A1 publication Critical patent/CA3021737A1/fr
Application granted granted Critical
Publication of CA3021737C publication Critical patent/CA3021737C/fr
Active legal-status Critical Current
Anticipated expiration legal-status Critical

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Abstract

La présente invention concerne un procédé de détection de signatures mutationnelles dans un échantillon d'ADN. L'invention concerne un procédé de détection de signatures issues de réarrangements dans l'ADN dans l'échantillon et de détermination des contributions de signatures de réarrangement connues auxdits réarrangements. Dans des modes de réalisation particuliers, les contributions sont déterminées par calcul de la similarité cosinus entre les mutations de réarrangement dans ledit catalogue et les signatures mutationnelles de réarrangement. Les signatures de réarrangement sont classées en fonction du fait qu'elles sont groupées ou non, du fait qu'elles sont des duplications, de suppressions, d'inversions ou de translocations en tandem et sur la base de leur taille.
CA3021737A 2016-05-01 2017-04-28 Procede de detection d'une signature mutationnelle dans un echantillon Active CA3021737C (fr)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
GB1607628.3 2016-05-01
GB1607628.3A GB2555765A (en) 2016-05-01 2016-05-01 Method of detecting a mutational signature in a sample
PCT/EP2017/060279 WO2017191068A1 (fr) 2016-05-01 2017-04-28 Procédé de détection d'une signature mutationnelle dans un échantillon

Publications (2)

Publication Number Publication Date
CA3021737A1 CA3021737A1 (fr) 2017-11-09
CA3021737C true CA3021737C (fr) 2025-12-09

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