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1. WO2020067603 - METHOD AND DEVICE FOR DETECTING GENOMIC STRUCTURAL VARIATION ON BASIS OF MULTI-REFERENCE GENOME

Publication Number WO/2020/067603
Publication Date 02.04.2020
International Application No. PCT/KR2018/014079
International Filing Date 16.11.2018
IPC
G16B 40/00 2019.01
GPHYSICS
16INFORMATION AND COMMUNICATION TECHNOLOGY SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
40ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
G16B 5/00 2019.01
GPHYSICS
16INFORMATION AND COMMUNICATION TECHNOLOGY SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
5ICT specially adapted for modelling or simulations in systems biology, e.g. gene-regulatory networks, protein interaction networks or metabolic networks
G16H 50/20 2018.01
GPHYSICS
16INFORMATION AND COMMUNICATION TECHNOLOGY SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
HHEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
50ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
20for computer-aided diagnosis, e.g. based on medical expert systems
CPC
G16B 40/00
GPHYSICS
16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
40ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
G16B 5/00
GPHYSICS
16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
5ICT specially adapted for modelling or simulations in systems biology, e.g. gene-regulatory networks, protein interaction networks or metabolic networks
G16H 50/20
GPHYSICS
16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
HHEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
50ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
20for computer-aided diagnosis, e.g. based on medical expert systems
Applicants
  • 한양대학교 산학협력단 INDUSTRY-UNIVERSITY COOPERATION FOUNDATION HANYANG UNIVERSITY [KR]/[KR]
Inventors
  • 남진우 NAM, Jin Wu
  • 최민학 CHOI, Minhak
  • 이도헌 YI, Dohun
  • 손장일 SOHN, Jang-il
Agents
  • 특허법인 아이시스 ISIS IP LAW LLC
Priority Data
10-2018-011641028.09.2018KR
10-2018-013987514.11.2018KR
Publication Language Korean (KO)
Filing Language Korean (KO)
Designated States
Title
(EN) METHOD AND DEVICE FOR DETECTING GENOMIC STRUCTURAL VARIATION ON BASIS OF MULTI-REFERENCE GENOME
(FR) PROCÉDÉ ET DISPOSITIF DE DÉTECTION DES VARIATIONS DE STRUCTURE GÉNOMIQUE SUR LA BASE D'UN GÉNOME À RÉFÉRENCES MULTIPLES
(KO) 다중 참조 유전체에 기반한 유전체 구조변이 검출 방법 및 구조변이 검출 장치
Abstract
(EN)
A method for detecting a genomic structural variation on the basis of a multi-reference genome comprises the steps in which: a computer device receives an input of sample sequence data; the computer device compares multi-reference genome data and the sample sequence data and thus decides at least one k-mer read, which is not present in the multi-reference genome, among reads of the sample sequence data; the computer device maps at least one k-mer read to standard reference genome data and thus decides a breakpoint and a candidate region of a structural variation; and the computer device predicts the structural variation type for the sample sequence data on the basis of a sequence mapping pattern and the breakpoint in accordance with the mapping result.
(FR)
L'invention concerne un procédé de détection d'une variation de structure génomique sur la base d'un génome multi-référence comprenant les étapes dans lesquelles : un dispositif informatique reçoit une entrée de données de séquence d'échantillon; le dispositif informatique compare des données de génome multi-référence et les données de séquence d'échantillon et décide ainsi au moins une lecture de k-mer, qui n'est pas présente dans le génome multi-référence, parmi les lectures des données de séquence d'échantillon; le dispositif informatique mappe au moins un k-mer lu à des données de génome de référence standard et décide ainsi d'un point d'arrêt et d'une région candidate d'une variation de structure; et le dispositif informatique prédit le type de variation de structure pour les données de séquence d'échantillon sur la base d'un motif de mappage de séquence et du point d'arrêt conformément au résultat de mappage.
(KO)
다중 참조 유전체에 기반한 유전체 구조변이 검출 방법은 컴퓨터장치가 샘플 서열 데이터를 입력받는 단계, 상기 컴퓨터장치가 다중 참조 유전체 데이터와 상기 샘플 서열 데이터를 비교하여 상기 샘플 서열 데이터의 리드(read) 중 상기 다중 참조 유전체에 존재하지 않는 적어도 하나의 k-mer 리드를 결정하는 단계, 상기 컴퓨터장치가 상기 적어도 하나의 k-mer 리드를 표준 참조 유전체 데이터에 매핑하여 구조변이의 후보 영역 및 브레이크포인트를 결정하는 단계 및 상기 컴퓨터장치가 상기 매핑 결과에 따른 브레이크포인트 및 서열 매핑 패턴을 기준으로 상기 샘플 서열 데이터에 대한 구조변이 유형을 예측하는 단계를 포함한다.
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