ACMG-oriented multi-source heterogeneous human gene variation data management and annotation method and device

• Main Authors: LI JINCHEN, ZHAO GUIHU, WANG ZHENG, LI BIN
• Format: Patent
• Language: Chinese; English
• Published: 02.01.2024
• Subjects: INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS; PHYSICS

The invention discloses an ACMG-oriented multi-source heterogeneous human gene variation data management and annotation method and device. The method comprises the following steps: uniformly converting storage modes and formats of multi-source heterogeneous data related to ACMG pathogenic variation rating to form a database; the method comprises the following steps: adding a configuration item table in a database, configuring information, displayed on a page, of each field of a data source, storing the information in a corresponding column of the configuration item table, and calling the configuration item table for dynamic display when the information is displayed on a front-end page; the annotation information is divided into two types of variation level and gene level according to an ACMG guide, data in the configured database is classified and integrated according to the two types, and each column of integrated data is controlled and displayed through programming; a configuration table is created, and a d