METHOD AND SYSTEM FOR PROVIDING GENETIC INFORMATION ANALYSIS RESULT

WIPO Patent Application WO/2024/053860

A1

The present disclosure provides a method for providing a genetic information analysis result, performed by at least one processor. This method may comprise the steps of: outputting a user interface for providing a genetic information analysis result of a sample; and in response to a user input received through the user interface, outputting interactive response information containing detailed information of the genetic information analysis result onto at least one region included in the user interface. A list of genes associated with a specific disease may be output onto a first region included in the user interface, a first browser for visualizing and searching information on a variant obtained by analyzing the sample may be output onto a second region included in the user interface, and a second browser for searching sequence obtained by analyzing the sample may be output onto a third region included in the user interface.

WO/2018/195404	ULTRA-SENSITIVE AND UNIVERSAL SPECIES DETECTION PIPELINE FOR NEXT GENERATION SEQUENCING DATA
WO/2012/103189	IDENTIFICATION AND MEASUREMENT OF RELATIVE POPULATIONS OF MICROORGANISMS WITH DIRECT DNA SEQUENCING
WO/2021/202584	SYSTEMS AND METHODS FOR GUT MICROBIOME PRECISION MEDICINE

LEE JONGKEUN (KR)
PARK SEONGYEOL (KR)
KWON YOUNGOH (KR)

PCT/KR2023/010796

March 14, 2024

July 26, 2023

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GENOME INSIGHT TECH INC (KR)

G16B40/20; G16B20/00; G16B20/20; G16B20/50; G16B45/00

KR20120042060A	2012-05-03
KR20210094783A	2021-07-30
KR101967248B1	2019-04-10

SHIN JAEMOON, JEON JUNBEOM, JUNG DAWOON, KIM KIYONG, KIM YUN JOONG, JEONG DONG-HOON, YOON JEEHEE: "PhenGenVar: A User-Friendly Genetic Variant Detection and Visualization Tool for Precision Medicine", JOURNAL OF PERSONALIZED MEDICINE, vol. 12, no. 959, pages 1 - 11, XP093082442, DOI: 10.3390/jpm12060959
PEARCE THOMAS M., NIKIFOROVA MARINA N., ROY SOMAK: "Interactive Browser-Based Genomics Data Visualization Tools for Translational and Clinical Laboratory Applications", THE JOURNAL OF MOLECULAR DIAGNOSTICS, AMERICAN SOCIETY FOR INVESTIGATIVE PATHOLOGY AND THE ASSOCIATION FOR MOLECULAR PATHOLOGY, vol. 21, no. 6, 1 November 2019 (2019-11-01), pages 985 - 993, XP093082444, ISSN: 1525-1578, DOI: 10.1016/j.jmoldx.2019.06.005

ECM IP & LAW FIRM (KR)

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