CA2840418C - Procede de determination de la presence ou de l'absence d'aneuploides differents dans un echantillon - Google Patents

Procede de determination de la presence ou de l'absence d'aneuploides differents dans un echantillon Download PDF

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CA2840418C
CA2840418C CA2840418A CA2840418A CA2840418C CA 2840418 C CA2840418 C CA 2840418C CA 2840418 A CA2840418 A CA 2840418A CA 2840418 A CA2840418 A CA 2840418A CA 2840418 C CA2840418 C CA 2840418C
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chromosome
chromosomes
sequence
interest
normalizing
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CA2840418A1 (fr
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Richard P. Rava
David A. COMSTOCK
Brian K. Rhees
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Verinata Health Inc
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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
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    • C12Q1/6869—Methods for sequencing
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    • G16B10/00—ICT specially adapted for evolutionary bioinformatics, e.g. phylogenetic tree construction or analysis
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    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
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    • G16B15/00—ICT specially adapted for analysing two-dimensional [2D] or three-dimensional [3D] molecular structures, e.g. structural or functional relations or structure alignment
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    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
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    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
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    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
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    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material

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Abstract

La présente invention concerne un procédé de détermination de variations du nombre de copies (VNC) d'une séquence d'intérêt dans un échantillon d'essai qui comprend un mélange d'acides nucléiques dont on sait ou suspecte qu'ils diffèrent en termes de quantité d'une ou plusieurs séquences d'intérêt. Le procédé propose une approche statistique qui tient compte de la variabilité accumulée provenant de la variabilité inter-chromosomique et inter-séquences. Le procédé est applicable à la détermination de VNC de toute aneuploïdie ftale, et des VNC dont on sait ou suspecte qu'elles sont associées à une variété d'affections médicales. Les VNC pouvant être déterminées selon le procédé de la présente invention comprennent les trisomies et les monosomies de l'un quelconque des chromosomes 1 à 22, X et Y, d'autres polysomies chromosomiques, et les délétions et/ou duplications de segments de l'un quelconque des chromosomes, qui peuvent être détectées par séquençage unique des acides nucléiques d'un échantillon. Toute aneuploïdie peut être déterminée à partir des informations de séquençage obtenues par séquençage unique des acides nucléiques d'un échantillon d'essai.
CA2840418A 2011-07-26 2011-07-26 Procede de determination de la presence ou de l'absence d'aneuploides differents dans un echantillon Active CA2840418C (fr)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
PCT/US2011/045412 WO2013015793A1 (fr) 2011-07-26 2011-07-26 Procédé de détermination de la présence ou de l'absence d'aneuploïdes différents dans un échantillon

Publications (2)

Publication Number Publication Date
CA2840418A1 CA2840418A1 (fr) 2013-01-31
CA2840418C true CA2840418C (fr) 2019-10-29

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CA2840418A Active CA2840418C (fr) 2011-07-26 2011-07-26 Procede de determination de la presence ou de l'absence d'aneuploides differents dans un echantillon

Country Status (8)

Country Link
EP (1) EP2563937A1 (fr)
JP (1) JP6161607B2 (fr)
KR (1) KR101974492B1 (fr)
CN (1) CN103003447B (fr)
AU (1) AU2011373694A1 (fr)
CA (1) CA2840418C (fr)
GB (1) GB2485635B (fr)
WO (1) WO2013015793A1 (fr)

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AU2011373694A1 (en) 2013-05-02
HK1174063A1 (en) 2013-05-31
JP2014521334A (ja) 2014-08-28
GB2485635A (en) 2012-05-23
KR101974492B1 (ko) 2019-05-02
GB201114713D0 (en) 2011-10-12
EP2563937A1 (fr) 2013-03-06
CA2840418A1 (fr) 2013-01-31
JP6161607B2 (ja) 2017-07-12
WO2013015793A1 (fr) 2013-01-31
KR20140050032A (ko) 2014-04-28
CN103003447B (zh) 2020-08-25
CN103003447A (zh) 2013-03-27
GB2485635B (en) 2012-11-28

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