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1. (WO2018166476) METHOD FOR DETECTING MUTATION SITE IN SAMPLE
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Pub. No.: WO/2018/166476 International Application No.: PCT/CN2018/079012
Publication Date: 20.09.2018 International Filing Date: 14.03.2018
IPC:
C12Q 1/68 (2018.01) ,C12M 1/34 (2006.01) ,G06F 19/18 (2011.01) ,G06F 19/00 (2018.01)
C CHEMISTRY; METALLURGY
12
BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
Q
MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1
Measuring or testing processes involving enzymes or micro-organisms; Compositions therefor; Processes of preparing such compositions
68
involving nucleic acids
C CHEMISTRY; METALLURGY
12
BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
M
APPARATUS FOR ENZYMOLOGY OR MICROBIOLOGY
1
Apparatus for enzymology or microbiology
34
Measuring or testing with condition measuring or sensing means, e.g. colony counters
G PHYSICS
06
COMPUTING; CALCULATING; COUNTING
F
ELECTRIC DIGITAL DATA PROCESSING
19
Digital computing or data processing equipment or methods, specially adapted for specific applications
10
Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
18
for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
G PHYSICS
06
COMPUTING; CALCULATING; COUNTING
F
ELECTRIC DIGITAL DATA PROCESSING
19
Digital computing or data processing equipment or methods, specially adapted for specific applications
Applicants: YIKON GENOMICS (SHANGHAI) CO., LTD.[CN/CN]; Block 17, No.26, 1698 Wangyuan Rd., Fengxian District Shanghai 201499, CN
Inventors: GENG, Hefang; CN
REN, Jun; CN
LIANG, Qinsi; CN
Agent: XU AND PARTNERS, LLC.; Room 106, Building No. 1, Universal High-Tech Plaza 958 Zhen Bei Road, Putuo District Shanghai 200333, CN
Priority Data:
201710153638.215.03.2017CN
Title (EN) METHOD FOR DETECTING MUTATION SITE IN SAMPLE
(FR) MÉTHODE DE DÉTECTION D'UN SITE DE MUTATION DANS UN ÉCHANTILLON
(ZH) 检测样本中突变位点的方法
Abstract:
(EN) Provided is a non-therapeutic, non-diagnostic method for detecting a mutation site in a sample, comprising: obtaining the genome sequence of a sample and aligning same with a reference genome; splitting the reference genome into segments; calculating the copy number; performing a Z test; calculating the whole genome chaos score according to the Z value; and further detecting tumour-associated mutation sites for the sample with a score greater than a predetermined value.
(FR) L'invention concerne une méthode non thérapeutique, non diagnostique pour détecter un site de mutation dans un échantillon, comprenant : l'obtention de la séquence génomique d'un échantillon et l'alignement de celui-ci avec un génome de référence ; la division du génome de référence en segments ; le calcul du nombre de copies ; la réalisation d'un test Z ; le calcul du score de chaos du génome entier en fonction de la valeur Z ; et la détection en outre des sites de mutation associés à une tumeur pour l'échantillon avec un score supérieur à une valeur prédéterminée.
(ZH) 提供一种非治疗性非诊断性的检测样本中突变位点的方法,包括获得样本的基因组序列,并与参考基因组比对,将参考基因组分段,计算拷贝数,进行Z检验,根据Z值计算全基因组混乱度评分,对于评分大于预定值的样本进一步检测肿瘤相关的突变位点。
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 (ARIPO) (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, TZ, UG, ZM, ZW)
Eurasian Patent Office (AM, AZ, BY, KG, KZ, RU, TJ, TM)
European Patent Office (EPO) (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: Chinese (ZH)
Filing Language: Chinese (ZH)