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 PDFInfo
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- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
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.
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 |
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CA2840418A1 CA2840418A1 (fr) | 2013-01-31 |
CA2840418C true CA2840418C (fr) | 2019-10-29 |
Family
ID=44838718
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
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 (9)
Country | Link |
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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) |
HK (1) | HK1174063A1 (fr) |
WO (1) | WO2013015793A1 (fr) |
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-
2011
- 2011-07-26 WO PCT/US2011/045412 patent/WO2013015793A1/fr active Application Filing
- 2011-07-26 AU AU2011373694A patent/AU2011373694A1/en not_active Abandoned
- 2011-07-26 JP JP2014522796A patent/JP6161607B2/ja active Active
- 2011-07-26 KR KR1020147002820A patent/KR101974492B1/ko active IP Right Grant
- 2011-07-26 CA CA2840418A patent/CA2840418C/fr active Active
- 2011-07-26 CN CN201180022958.5A patent/CN103003447B/zh active Active
- 2011-07-26 GB GB1114713.9A patent/GB2485635B/en active Active
- 2011-07-26 EP EP11744148A patent/EP2563937A1/fr not_active Withdrawn
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2012
- 2012-10-26 HK HK12110738.2A patent/HK1174063A1/xx unknown
Also Published As
Publication number | Publication date |
---|---|
GB201114713D0 (en) | 2011-10-12 |
KR101974492B1 (ko) | 2019-05-02 |
KR20140050032A (ko) | 2014-04-28 |
JP6161607B2 (ja) | 2017-07-12 |
CN103003447B (zh) | 2020-08-25 |
CA2840418A1 (fr) | 2013-01-31 |
HK1174063A1 (en) | 2013-05-31 |
EP2563937A1 (fr) | 2013-03-06 |
CN103003447A (zh) | 2013-03-27 |
GB2485635B (en) | 2012-11-28 |
AU2011373694A1 (en) | 2013-05-02 |
GB2485635A (en) | 2012-05-23 |
WO2013015793A1 (fr) | 2013-01-31 |
JP2014521334A (ja) | 2014-08-28 |
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