CY1121772T1 - Χρησιμοποιηση μεγεθους θραυσματων του ελευθερου κυτταρων dna για προσδιορισμο παραλλαγων αριθμου αντιγραφων - Google Patents

Χρησιμοποιηση μεγεθους θραυσματων του ελευθερου κυτταρων dna για προσδιορισμο παραλλαγων αριθμου αντιγραφων

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CY1121772T1
CY1121772T1 CY20191100684T CY191100684T CY1121772T1 CY 1121772 T1 CY1121772 T1 CY 1121772T1 CY 20191100684 T CY20191100684 T CY 20191100684T CY 191100684 T CY191100684 T CY 191100684T CY 1121772 T1 CY1121772 T1 CY 1121772T1
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copy number
methods
determining
disclosed
cell
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CY20191100684T
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Darya I. Chudova
Catalin Barbacioru
Sven Duenwald
David A. COMSTOCK
Richard P. Rava
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Verinata Health, Inc.
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    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10—Ploidy or copy number detection
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Abstract

Αποκαλύπτονται μέθοδοι για προσδιορισμό παραλλαγής αριθμού αντιγράφων (CNV) που είναι γνωστό ή υπάρχει υποψία ότι συσχετίζεται με μια ποικιλία ιατρικών καταστάσεων. Σε κάποιες εφαρμογές, παρέχονται μέθοδοι για τον προσδιορισμό παραλλαγής αριθμού αντιγράφων (CNV) των εμβρύων χρησιμοποιώντας μητρικά δείγματα που περιλαμβάνουν ελεύθερο μητρικών και εμβρυϊκών κυττάρων DNA. Σε κάποιες εφαρμογές, μέθοδοι παρέχονται για προσδιορισμό CNV που είναι γνωστό ή υπάρχει υποψία ότι συσχετίζονται με μια ποικιλία ιατρικών καταστάσεων. Κάποιες εφαρμογές που αποκαλύπτονται εις το παρόν παρέχουν μεθόδους για βελτίωση της ευαισθησίας και/ή της ειδικότητας, της ανάλυσης δεδομένων των αλληλουχιών από εξαγωγή μιας παραμέτρου μεγέθους θραύσματος, όπως είναι μια σταθμισμένη για μέγεθος κάλυψη ή ένα κλάσμα θραυσμάτων σε μια κλίμακα μεγεθών. Σε κάποιες εφαρμογές, η παράμετρος μεγέθους θραύσματος ρυθμίζεται για απομάκρυνση της μεροληψίας περιεχομένων-GC στα πλαίσια δειγμάτων. Σε κάποιες εφαρμογές, η απομάκρυνση της μεροληψίας περιεχομένων-GC στα πλαίσια δειγμάτων βασίζεται σε δεδομένα αλληλουχιών που διορθώνονται για συστηματική παραλλαγή κοινή μεταξύ των ανεπηρέαστων δειγμάτων εκπαίδευσης. Επίσης αποκαλύπτονται και συστήματα και προϊόντα προγραμμάτων υπολογιστήρα για αξιολόγηση των CNV των αλληλουχιών ενδιαφέροντος.
CY20191100684T 2014-12-12 2019-06-28 Χρησιμοποιηση μεγεθους θραυσματων του ελευθερου κυτταρων dna για προσδιορισμο παραλλαγων αριθμου αντιγραφων CY1121772T1 (el)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201462091380P 2014-12-12 2014-12-12
PCT/US2015/065362 WO2016094853A1 (en) 2014-12-12 2015-12-11 Using cell-free dna fragment size to determine copy number variations

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US (2) US11072814B2 (el)
EP (3) EP3567120B1 (el)
CN (2) CN114181997A (el)
AU (1) AU2015360298B2 (el)
CA (1) CA2970501C (el)
CY (1) CY1121772T1 (el)
DK (1) DK3230469T3 (el)
HK (1) HK1244844B (el)
MA (1) MA40939A (el)
WO (1) WO2016094853A1 (el)

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CA2970501C (en) 2020-09-15
US20210371907A1 (en) 2021-12-02
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DK3230469T3 (da) 2019-07-15
MA40939A (fr) 2017-10-18
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