Sanger gene sequencing result rapid interpretation method and system and medium

• Main Authors: JIANG QIANG, WANG JINPENG, WANG XIUGE, LI JIAO, GAO YAPING, LI GUANGDONG, YANG CHUNHONG, QIU XIAOTIAN, LIU CHOUSHENG, WEI XIAOCHAO, LIU WENHAO, ZHANG GUIXIANG, HUANG JINMING, ZHANG YARAN, XIAO YAO, JU ZHIHUA
• Format: Patent
• Language: Chinese; English
• Published: 24.10.2023
• Subjects: INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS; PHYSICS

The invention belongs to the field of gene sequencing, and provides a Sanger gene sequencing result rapid interpretation method and system and a medium. The Sanger gene sequencing result rapid interpretation method comprises the following steps: acquiring a Sanger gene sequencing file, extracting signal values of four basic groups of each sequencing site based on the sequencing file, judging a homozygous or heterozygous state of each sequencing site, and generating a main sequence and a secondary sequence; configuration file information is obtained, the position of the target site is positioned in the main sequence according to the anchoring sequence of the target site, then the homozygous or heterozygous state of the target site is determined, target site bases in the main sequence and the secondary sequence are extracted, and the genotype of the target site is obtained; and outputting a genotype or amino acid report according to the genotype of the target site and the position of the target site. 本发明属于基因测序领