The invention belongs to the technical field of
medical software development, and particularly relates to a
plateau newborn inherited
metabolic disease screening
system, a computer readable storage medium and application of the
plateau newborn inherited
metabolic disease screening
system. According to the screening
system, an altitude hierarchical multi-level reference value
database based on a local healthy newborn
queue is established, and the problem that the
false positive rate of a plain area screening model in a
plateau area is too high is solved by fitting an altitude
metabolism marker reference median and a standard deviation curve. By designing a'biochemical
primary screening-risk scoring-targeted sequencing automatic triggering 'three-level joint
control data processing flow, targeted sequencing guided by a crowd specific
pathogenic mutation library is started only when the biochemical risk is high, unnecessary
whole genome sequencing is avoided, and the screening cost is remarkably reduced. The system can continuously iterate a reference curve and a
risk threshold value according to definite diagnosis data, and closed-loop dynamic optimization from
sample collection to
report generation is achieved. The method has plateau adaptability, crowd specificity and cost
controllability, and has a good clinical application prospect.