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1. WO2017135768 - METHOD AND SYSTEM FOR PREDICTING RISK OF DEVELOPING GENETIC DISORDER IN PUTATIVE OFFSPRING

Publication Number WO/2017/135768
Publication Date 10.08.2017
International Application No. PCT/KR2017/001245
International Filing Date 06.02.2017
IPC
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
10
Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
22
for sequence comparison involving nucleotides or amino acids, e.g. homology search, motif or SNP [Single-Nucleotide Polymorphism] discovery or sequence alignment
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
24
for machine learning, data mining or biostatistics, e.g. pattern finding, knowledge discovery, rule extraction, correlation, clustering or classification
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
G06F 19/18 (2011.01)
G06F 19/22 (2011.01)
G06F 19/24 (2011.01)
C12Q 1/68 (2006.01)
CPC
C12Q 1/68
G16B 20/00
G16B 30/00
G16B 40/00
Applicants
  • 사회복지법인 삼성생명공익재단 SAMSUNG LIFE PUBLIC WELFARE FOUNDATION [KR/KR]; 서울시 용산구 이태원로55길 48 48, Itaewon-ro 55-gil Yongsan-gu, Seoul 04348, KR
Inventors
  • 기창석 KI, Chang Seok; KR
  • 기강현 KI, Kang Hyun; KR
Agents
  • 리앤목 특허법인 Y.P.LEE, MOCK & PARTNERS; 서울시 강남구 언주로 30길 13 대림아크로텔 12층 12F Daelim Acrotel, 13 Eonju-ro 30-gil Gangnam-gu, Seoul 06292, KR
Priority Data
10-2016-001500705.02.2016KR
Publication Language Korean (KO)
Filing Language Korean (KO)
Designated States
Title
(EN) METHOD AND SYSTEM FOR PREDICTING RISK OF DEVELOPING GENETIC DISORDER IN PUTATIVE OFFSPRING
(FR) PROCÉDÉ ET SYSTÈME PERMETTANT DE PRÉDIRE LE RISQUE DE DÉVELOPPEMENT D'UN TROUBLE GÉNÉTIQUE DANS LA PROGÉNITURE PUTATIVE
(KO) 추정 자손의 유전질환 발병 위험성을 예측하는 방법 및 시스템
Abstract
(EN)
A method and a system for predicting a risk of developing a genetic disorder in a putative offspring between a male subject and a female subject are provided. Since genetic information of a putative offspring not associated with a genetic disorder is removed from male and female genomic information and is not disclosed to anyone, a method and a system according to one aspect can protect privacy regarding personal genetic information and also can be utilized in the prevention or early diagnosis of a genetic disorder in a putative offspring.
(FR)
L'invention concerne un procédé et un système permettant de prédire un risque de développement d'un trouble génétique dans une progéniture putative entre un sujet masculin et un sujet féminin. Comme les informations génétiques d'une progéniture putative non associées à un trouble génétique sont supprimées des informations génomiques masculines et féminines et ne sont divulguées à personne, un procédé et un système selon un aspect de l’invention permettent de respecter la confidentialité concernant les informations génétiques personnelles et peuvent servir également à la prévention ou au diagnostic précoce d'un trouble génétique dans une progéniture putative.
(KO)
남성 대상체 및 여성 대상체 사이의 추정 자손의 유전질환 발병 위험성을 예측하는 방법 및 시스템이 제공된다. 일 양상에 따른 방법 및 시스템은 남성 및 여성의 유전체 정보에서 미래 자녀에 대한 유전질환과 관련되지 않은 유전 정보는 삭제되어 어느 누구에도 공개되지 않기 때문에, 개인의 유전정보에 대한 프라이버시를 보호할 수 있으면서 미래 자녀의 유전질환을 예방하거나 또는 조기 진단하는데 활용할 수 있다.
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