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1. (WO2019031785) METHOD FOR DETECTING VARIATION IN NUCLEOTIDE SEQUENCE ON BASIS OF GENE PANEL AND DEVICE FOR DETECTING VARIATION IN NUCLEOTIDE SEQUENCE USING SAME
Latest bibliographic data on file with the International BureauSubmit observation

Pub. No.: WO/2019/031785 International Application No.: PCT/KR2018/008891
Publication Date: 14.02.2019 International Filing Date: 06.08.2018
IPC:
G16B 20/00 (2019.01) ,G16B 40/00 (2019.01) ,C12Q 1/6834 (2018.01)
[IPC code unknown for G16B 20][IPC code unknown for G16B 40][IPC code unknown for C12Q 1/6834]
Applicants:
연세대학교 산학협력단 INDUSTRY-ACADEMIC COOPERATION FOUNDATION, YONSEI UNIVERSITY [KR/KR]; 서울시 서대문구 연세로 50 50 Yonsei-ro Seodaemun-gu Seoul 03722, KR
Inventors:
김상우 KIM, Sang Woo; KR
김준호 KIM, Jun Ho; KR
Agent:
특허법인 인벤투스 INVENTUS INTELLECTUAL PROPERTY GROUP; 서울시 강남구 언주로 425 재송빌딩 5층 5F, Jaesong Bldg., 425, Eonju-ro Gangnam-gu Seoul 06222, KR
Priority Data:
10-2017-009982207.08.2017KR
Title (EN) METHOD FOR DETECTING VARIATION IN NUCLEOTIDE SEQUENCE ON BASIS OF GENE PANEL AND DEVICE FOR DETECTING VARIATION IN NUCLEOTIDE SEQUENCE USING SAME
(FR) PROCÉDÉ DE DÉTECTION D'UNE VARIATION DANS UNE SÉQUENCE DE NUCLÉOTIDES SUR LA BASE D'UNE BATTERIE DE GÈNES ET DISPOSITIF DE DÉTECTION D'UNE VARIATION DANS UNE SÉQUENCE DE NUCLÉOTIDES L'UTILISANT
(KO) 유전자 패널에 기초한 염기서열의 변이 검출방법 및 이를 이용한 염기서열의 변이 검출 디바이스
Abstract:
(EN) The present invention provides a method for detecting a variation in a nucleotide sequence, the method comprising the steps of: acquiring multiple target genes for one subject sample by means of a gene panel including probes for multiple target genes; performing multiple rounds of sequencing for each of the multiple target genes by means of next generation sequencing to collect multiple nucleotide sequences, inclusive of identical or non-identical nucleotide sequences, for each of the multiple target genes; matching a reference nucleotide sequence with multiple nucleotide sequences; determining which nucleotide sequences among the multiple nucleotide sequences do not match with the reference nucleotide sequence with respect to the multiple target genes; and determining nucleotide sequence variation candidates for the multiple target genes in the subject sample on the basis of the mutation probability for gene positions at which the unmatched nucleotide sequences are discordant with the reference nucleotide sequence, the probability being calculated in a corrective calculation manner according to statistical analysis of unmatched nucleotide sequences.
(FR) La présente invention concerne un procédé de détection d'une variation d'une séquence de nucléotides, le procédé comprenant les étapes suivantes : acquérir de multiples gènes cibles à titre d'échantillon de sujet au moyen d'une batterie de gènes comprenant des sondes pour de multiples gènes cibles; réaliser de multiples cycles de séquençage pour chacun desdits multiples gènes cibles au moyen d'un séquençage de nouvelle génération pour collecter de multiples séquences de nucléotides, dont des séquences de nucléotides identiques ou non identiques, pour chacun desdits multiples gènes cibles; apparier une séquence de nucléotides de référence avec lesdites multiples séquences de nucléotides; déterminer les séquences de nucléotides parmi les multiples séquences de nucléotides qui ne sont pas appariées à la séquence de nucléotides de référence en termes de multiples gènes cibles; et déterminer des candidats de variation de séquence de nucléotides pour les multiples gènes cibles dans l'échantillon du sujet sur la base de la probabilité de mutation à des positions de gènes auxquelles les séquences de nucléotides non appariées sont discordantes avec la séquence de nucléotides de référence, où la probabilité est obtenue par un calcul correctif selon une analyse statistique des séquences de nucléotides non appariées.
(KO) 본 발명은, 복수의 목적 유전자에 대한 프로브를 포함하는 유전자 패널을 이용하여, 하나의 대상샘플에 대하여 복수의 목적 유전자를 획득하는 단계, 차세대 염기서열 분석을 이용하여, 복수의 목적 유전자 각각을 복수 회 염기서열 분석하여, 복수의 목적 유전자 각각에 대한 동일한 염기서열 또는 동일하지 않은 염기서열을 포함하는, 복수 개의 염기서열을 수집하는 단계, 참조 염기서열과 복수 개의 염기서열을 매칭하는 단계, 복수 개의 염기서열 중 복수의 목적 유전자에 대하여 참조 염기서열과 매칭되지 않는 염기서열들을 결정하는 단계 및 매칭되지 않는 염기서열들의 통계적 분석에 따라 보정된 산출방식으로 산출된, 매칭되지 않는 염기서열들 내의 불 일치하는 유전자 자리에 대한 돌연변이 확률값을 기초로, 대상샘플 내의 복수의 목적 유전자에 대한 염기서열 변이 후보를 결정하는 단계를 포함하는, 염기서열 변이의 검출방법을 제공한다.
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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 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: Korean (KO)
Filing Language: Korean (KO)