WIPO logo
Mobile | Deutsch | Español | Français | 日本語 | 한국어 | Português | Русский | 中文 | العربية |
PATENTSCOPE

Search International and National Patent Collections
World Intellectual Property Organization
Search
 
Browse
 
Translate
 
Options
 
News
 
Login
 
Help
 
Machine translation
1. (WO2018022890) GENETIC COPY NUMBER ALTERATION CLASSIFICATIONS
Latest bibliographic data on file with the International Bureau    Submit observation

Pub. No.:    WO/2018/022890    International Application No.:    PCT/US2017/044185
Publication Date: 01.02.2018 International Filing Date: 27.07.2017
IPC:
G06F 19/18 (2011.01)
Applicants: SEQUENOM, INC. [US/US]; 3595 JOHN HOPKINS COURT SAN DIEGO, California 92121 (US)
Inventors: MAZLOOM, Amin; (US).
DECIU, Cosmin; (US).
ZHAO, Chen; (US).
LIU, Tong; (US).
WU, Yijin; (US)
Agent: ROTHSCHILD, Cynthia B.; (US).
ROTHWELL, Rodney H.; (US)
Priority Data:
62/367,557 27.07.2016 US
Title (EN) GENETIC COPY NUMBER ALTERATION CLASSIFICATIONS
(FR) CLASSIFICATIONS DE MODIFICATIONS DU NOMBRE DE COPIES GÉNÉTIQUES
Abstract: front page image
(EN)Technology provided herein relates in part to non-invasive classification of one or more genetic copy number alterations (CNAs) for a test sample. Certain methods include sampling a quantification of sequence reads from parts of a genome, generating a confidence determination, and using the confidence determination to enhance classification. Technology provided herein is useful for classifying a genetic CNA for a sample as part of non-invasive pre-natal (NIPT) testing and oncology testing, for example.
(FR)La technologie de l'invention concerne en partie la classification non invasive d'une ou de plusieurs modifications du nombre de copies génétiques (CNA) pour un échantillon de test. Certains procédés consistent à échantillonner une quantification de lectures de séquences à partir des parties d'un génome, ainsi qu’à générer une détermination de confiance et à utiliser la détermination de confiance pour améliorer la classification. La technologie de l’invention permet de classer une CNA génétique pour un échantillon dans le cadre d'un test pré-natal non invasif (NIPT) et d'un test d'oncologie, par exemple.
Designated States: AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DJ, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IR, IS, JO, JP, KE, KG, KH, KN, KP, KR, KW, KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW.
African Regional Intellectual Property Organization (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, TZ, UG, ZM, ZW)
Eurasian Patent Organization (AM, AZ, BY, KG, KZ, RU, TJ, TM)
European Patent Office (AL, AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, TR)
African Intellectual Property Organization (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG).
Publication Language: English (EN)
Filing Language: English (EN)