Abstract: Disclosed is a method of providing genetic information analysis results performed by at least one hardware processor. The method may include displaying a user interface configured to provide genetic information analysis results for a specimen. The user interface includes: a list of genes associated with a specific disease in a first region within the user interface; a first browser configured to visualize and search for information regarding a variant obtained from analysis of the specimen in a second region within the user interface; and a second browser configured to search for sequence information obtained from analysis of the specimen in a third region within the user interface. The method may further include displaying, in response to user input received through the user interface, interactive response information comprising details of the genetic information analysis results to at least one region within the user interface.
Type:
Application
Filed:
August 31, 2023
Publication date:
March 7, 2024
Applicant:
Genome Insight Technology, Inc.
Inventors:
Jongkeun LEE, Seongyeol PARK, Youngoh KWON
Abstract: A method for analyzing sequences performed by one or more processors is provided, including aligning first sequence data generated at a first time point based on reference sequence data, in which the first time point is a time point after reading of a first read of a pair of paired-end reads is completed and at which a second read of the pair of paired-end reads is partially read, identifying a structural variant from the aligned first sequence data, and before reading the second read is completed, generating a first report including information on the identified structural variant.