BR112019003704A2 - métodos para a detecção de alterações na cópia genômica em amostras de dna - Google Patents

métodos para a detecção de alterações na cópia genômica em amostras de dna

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Publication number
BR112019003704A2
BR112019003704A2 BR112019003704A BR112019003704A BR112019003704A2 BR 112019003704 A2 BR112019003704 A2 BR 112019003704A2 BR 112019003704 A BR112019003704 A BR 112019003704A BR 112019003704 A BR112019003704 A BR 112019003704A BR 112019003704 A2 BR112019003704 A2 BR 112019003704A2
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Brazil
Prior art keywords
methods
dna samples
detecting
genomic copy
detecting genomic
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BR112019003704A
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English (en)
Inventor
k raymond Christopher
Hernandez Jennifer
P Lim Lee
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Resolution Bioscience Inc
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Publication of BR112019003704A2 publication Critical patent/BR112019003704A2/pt

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    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
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    • C12Q2523/00—Reactions characterised by treatment of reaction samples
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    • C12Q2525/00—Reactions involving modified oligonucleotides, nucleic acids, or nucleotides
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    • C12Q2537/00—Reactions characterised by the reaction format or use of a specific feature
    • C12Q2537/10—Reactions characterised by the reaction format or use of a specific feature the purpose or use of
    • C12Q2537/16—Assays for determining copy number or wherein the copy number is of special importance
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    • C12Q2545/00—Reactions characterised by their quantitative nature
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    • C12Q2563/00—Nucleic acid detection characterized by the use of physical, structural and functional properties
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    • C12Q2563/00—Nucleic acid detection characterized by the use of physical, structural and functional properties
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    • C40B40/04—Libraries containing only organic compounds
    • C40B40/06—Libraries containing nucleotides or polynucleotides, or derivatives thereof
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Abstract

a presente invenção inclui composições e métodos úteis para a detecção de uma alteração mutacional, snp, translocação, inversão, deleção, alteração no número de cópias ou outra variação genética dentro de uma amostra de dna genômico celular ou dna livre de células (cfdna). em algumas modalidades, as composições e métodos da presente invenção proporcionam um nível extremamente elevado de resolução que é particularmente útil na detecção de variações no número de cópias numa pequena fração do cfdna total de uma amostra biológica (por exemplo, sangue).
BR112019003704A 2016-08-25 2017-08-24 métodos para a detecção de alterações na cópia genômica em amostras de dna BR112019003704A2 (pt)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201662379593P 2016-08-25 2016-08-25
US201762481538P 2017-04-04 2017-04-04
PCT/US2017/048434 WO2018039463A1 (en) 2016-08-25 2017-08-24 Methods for the detection of genomic copy changes in dna samples

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BR112019003704A2 true BR112019003704A2 (pt) 2019-05-28

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US (2) US11319594B2 (pt)
EP (1) EP3504347A4 (pt)
JP (3) JP7217224B2 (pt)
KR (2) KR20230035431A (pt)
CN (2) CN109804080B (pt)
AU (1) AU2017315769B2 (pt)
BR (1) BR112019003704A2 (pt)
CA (1) CA3034649A1 (pt)
MX (1) MX2019002093A (pt)
RU (1) RU2019108294A (pt)
SG (1) SG11201901371XA (pt)
WO (1) WO2018039463A1 (pt)

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