MA44822A - Utilisation de la taille des fragments d'adn extracellulaire pour déterminer des variations du nombre de copies - Google Patents

Utilisation de la taille des fragments d'adn extracellulaire pour déterminer des variations du nombre de copies

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Publication number
MA44822A
MA44822A MA044822A MA44822A MA44822A MA 44822 A MA44822 A MA 44822A MA 044822 A MA044822 A MA 044822A MA 44822 A MA44822 A MA 44822A MA 44822 A MA44822 A MA 44822A
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Morocco
Prior art keywords
copy number
methods
implementations
determining
fetal
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Application number
MA044822A
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English (en)
Inventor
Catalin Barbacioru
Gengxin Chen
Darya I Chudova
David A Comstock
Sven Duenwald
Keith W Jones
Richard P Rava
Dimitri Skvortsov
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Verinata Health Inc
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Application filed by Verinata Health Inc filed Critical Verinata Health Inc
Publication of MA44822A publication Critical patent/MA44822A/fr

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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
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    • C12Q1/6869—Methods for sequencing
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    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
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    • 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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    • G06—COMPUTING; CALCULATING OR COUNTING
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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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Abstract

L 'invention concerne des méthodes permettant de déterminer la variation du nombre de copies (cnv), connue ou soupçonnée d' être associée à divers états pathologiques. Dans certains modes de réalisation, des procédés sont fournis pour déterminer la variation du nombre de copies de foetus à l'aide d'échantillons maternels comprenant de l'adn exempt de cellules maternelles et foetales. Dans certains modes de réalisation, des procédés sont fournis pour déterminer les cnv connues ou suspectées d’être associées à diverses conditions médicales. Certains modes de réalisation décrits ici proposent des procédés pour améliorer la sensibilité et / ou la spécificité de l'analyse de données de séquence en dérivant un paramètre de taille de fragment. Dans certaines mises en œuvre, les informations provenant de fragments de différentes tailles sont utilisées pour évaluer les variations du nombre de copies. Dans certaines mises en œuvre, une ou plusieurs statistiques t obtenues à partir d'informations de couverture de la séquence d'intérêt sont utilisées pour évaluer les variations du nombre de copies. Dans certaines mises en œuvre, une ou plusieurs estimations de fraction fœtale sont combinées à une ou plusieurs statistiques t pour déterminer les variations du nombre de copies.
MA044822A 2016-02-03 2016-12-20 Utilisation de la taille des fragments d'adn extracellulaire pour déterminer des variations du nombre de copies MA44822A (fr)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
US201662290891P 2016-02-03 2016-02-03

Publications (1)

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MA44822A true MA44822A (fr) 2017-08-09

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ID=57583028

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Application Number Title Priority Date Filing Date
MA052131A MA52131A (fr) 2016-02-03 2016-12-20 Utilisation de la taille des fragments d'adn libres dans les cellules pour déterminer des variations du nombre de copies
MA044822A MA44822A (fr) 2016-02-03 2016-12-20 Utilisation de la taille des fragments d'adn extracellulaire pour déterminer des variations du nombre de copies

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MA052131A MA52131A (fr) 2016-02-03 2016-12-20 Utilisation de la taille des fragments d'adn libres dans les cellules pour déterminer des variations du nombre de copies

Country Status (20)

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US (3) US10095831B2 (fr)
EP (2) EP3517626B1 (fr)
KR (2) KR102184868B1 (fr)
CN (2) CN113096726B (fr)
AR (1) AR107192A1 (fr)
AU (2) AU2016391100B2 (fr)
BR (1) BR112018015913B1 (fr)
CA (1) CA3013572C (fr)
CY (1) CY1121741T1 (fr)
DK (1) DK3202915T3 (fr)
EA (2) EA035148B1 (fr)
IL (2) IL260938B (fr)
MA (2) MA52131A (fr)
NZ (1) NZ745637A (fr)
SA (1) SA518392138B1 (fr)
SG (1) SG11201806595UA (fr)
TW (2) TWI708848B (fr)
UA (1) UA126898C2 (fr)
WO (1) WO2017136059A1 (fr)
ZA (1) ZA201805753B (fr)

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