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 αντιγραφωνInfo
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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.
Applications Claiming Priority (2)
Application Number | Priority Date | Filing Date | Title |
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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 |
Publications (1)
Publication Number | Publication Date |
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CY1121772T1 true CY1121772T1 (el) | 2020-07-31 |
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CY20191100684T CY1121772T1 (el) | 2014-12-12 | 2019-06-28 | Χρησιμοποιηση μεγεθους θραυσματων του ελευθερου κυτταρων dna για προσδιορισμο παραλλαγων αριθμου αντιγραφων |
Country Status (10)
Country | Link |
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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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2015
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- 2015-12-11 DK DK15819994.3T patent/DK3230469T3/da active
- 2015-12-11 CN CN202111260991.3A patent/CN114181997A/zh active Pending
- 2015-12-11 MA MA040939A patent/MA40939A/fr unknown
- 2015-12-11 EP EP19164987.0A patent/EP3567120B1/en active Active
- 2015-12-11 EP EP19155010.2A patent/EP3502273B1/en active Active
- 2015-12-11 CA CA2970501A patent/CA2970501C/en active Active
- 2015-12-11 EP EP15819994.3A patent/EP3230469B1/en active Active
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- 2015-12-11 WO PCT/US2015/065362 patent/WO2016094853A1/en active Application Filing
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2018
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US11072814B2 (en) | 2021-07-27 |
US20170362638A1 (en) | 2017-12-21 |
CN107750277B (zh) | 2021-11-09 |
EP3230469A1 (en) | 2017-10-18 |
AU2015360298B2 (en) | 2018-06-07 |
EP3502273B1 (en) | 2020-07-08 |
EP3567120A1 (en) | 2019-11-13 |
CN107750277A (zh) | 2018-03-02 |
WO2016094853A1 (en) | 2016-06-16 |
CA2970501C (en) | 2020-09-15 |
US20210371907A1 (en) | 2021-12-02 |
CN114181997A (zh) | 2022-03-15 |
AU2015360298A1 (en) | 2017-07-06 |
EP3502273A1 (en) | 2019-06-26 |
DK3230469T3 (da) | 2019-07-15 |
MA40939A (fr) | 2017-10-18 |
CA2970501A1 (en) | 2016-06-16 |
HK1244844B (zh) | 2020-02-07 |
EP3230469B1 (en) | 2019-04-03 |
EP3567120B1 (en) | 2020-08-19 |
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