Copy number variation determination, methods and systems

Details Copy number variation determination, methods and systems Copy number variation determination, methods and systems

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01)

Patent

CA 2698545

The present invention methods and systems for determining copy number variation of a target polynucleotide in a genome of a subject including amplification based techniques. Methods can include pre-amplification of the sample followed by distribution of sample and a plurality of reaction volumes, quantitative detection of a target polynucleotide and a reference polynucleotide, and analysis so as to determine the relative copy number of the target polynucleotide sequence in the genome of the subject.

La présente invention a pour objet des procédés et des systèmes destinés à déterminer la variation du nombre de copies d'un polynucléotide cible dans le génome d'un sujet comprenant des techniques basées sur une amplification. Les procédés peuvent comprendre une pré-amplification de l'échantillon suivie d'une distribution de l'échantillon et d'une pluralité de volumes réactionnels, d'une détection quantitative d'un polynucléotide cible et d'un polynucléotide de référence, et d'une analyse afin de déterminer le nombre relatif de copies de la séquence du polynucléotide cible dans le génome du sujet.

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