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CY1121741T1 - Χρηση του μεγεθους θραυσματων εξωκυτταριου dna για τον προσδιορισμο παραλλαγης αριθμου αντιγραφων - Google Patents

Χρηση του μεγεθους θραυσματων εξωκυτταριου dna για τον προσδιορισμο παραλλαγης αριθμου αντιγραφων

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Publication number
CY1121741T1
CY1121741T1 CY20191100642T CY191100642T CY1121741T1 CY 1121741 T1 CY1121741 T1 CY 1121741T1 CY 20191100642 T CY20191100642 T CY 20191100642T CY 191100642 T CY191100642 T CY 191100642T CY 1121741 T1 CY1121741 T1 CY 1121741T1
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CY
Cyprus
Prior art keywords
copy number
methods
number variation
fragment size
extracellular dna
Prior art date
Application number
CY20191100642T
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English (en)
Inventor
Sven Duenwald
David A. COMSTOCK
Catalin Barbacioru
Darya I. Chudova
Richard P. Rava
Keith W. Jones
Gengxin Chen
Dimitri Skvortsov
Original Assignee
Verinata Health, Inc.
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Publication date
Application filed by Verinata Health, Inc. filed Critical Verinata Health, Inc.
Publication of CY1121741T1 publication Critical patent/CY1121741T1/el

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Abstract

Αποκαλύπτονται μέθοδοι για τον προσδιορισμό της παραλλαγής αριθμού αντιγράφων (CNV) που είναι γνωστό ή υπάρχει υποψία ότι σχετίζεται με ένα πλήθος ιατρικών παθήσεων. Σε κάποιες υλοποιήσεις, παρέχονται μέθοδοι για τον προσδιορισμό της παραλλαγής αριθμού αντιγράφων εμβρύων με τη χρήση μητρικών δειγμάτων που περιέχουν μητρικό και εμβρυϊκό εξωκυττάριο DNA. Σε κάποιες υλοποιήσεις, παρέχονται μέθοδοι για τον προσιορισμό CNV που είναι γνωστό ή υπάρχει υποψία ότι σχετίζονται με ένα πλήθος ιατρικών παθήσεων. Κάποιες υλοποιήσεις που αποκαλύπτονται στο παρόν παρέχουν μεθόδους για τη βελτίωση της ευαισθησίας και/ή της εκλεκτικότητας της ανάλυσης δεδομένων αλληλουχίας διά του υπολογισμού μίας παραμέτρου μεγέθους θραύσματος. Σε κάποιες εφαρμογές, πληροφορίες για θραύσματα διαφορετικών μεγεθών χρησιμοποιούνται για τον υπολογισμό παραλλαγών αριθμού αντιγράφων. Σε κάποιες υλοποιήσεις, ένα ή περισσότερα στατιστικά t που λαμβάνονται από πληροφορίες κάλυψης της αλληλουχίας ενδιαφέροντος χρησιμοποιούνται για τον υπολογισμό παραλλαγών αριθμού αντιγράφων. Σε κάποιες εφαρμογές, μία ή περισσότερες εκτιμήσεις για το εμβρυϊκό κλάσμα συνδυάζονται με ένα ή περισσότερα στατιστικά t για τον προσδιορισμό παραλλαγών αριθμού αντιγράφων.
CY20191100642T 2016-02-03 2019-06-20 Χρηση του μεγεθους θραυσματων εξωκυτταριου dna για τον προσδιορισμο παραλλαγης αριθμου αντιγραφων CY1121741T1 (el)

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EP (2) EP3202915B1 (el)
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AU (2) AU2016391100B2 (el)
BR (1) BR112018015913B1 (el)
CA (1) CA3013572C (el)
CY (1) CY1121741T1 (el)
DK (1) DK3202915T3 (el)
EA (2) EA202090277A3 (el)
IL (2) IL260938B (el)
MA (2) MA44822A (el)
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