Gene variation detection method, device, program product, and electronic device

Abstract

This application discloses a method, apparatus, program product, and electronic device for detecting gene variations. The method includes: aligning a sequencing fragment to a reference genome to obtain alignment information; wherein, when analyzing sequencing fragments from an individual, the reference genome is a first reference genome containing a first sequence but not a second sequence; and when analyzing sequencing fragments from a population, the reference genome is a second reference genome containing both the first and second sequences; inputting the sequencing fragment information and alignment information into a variation detection model, and processing to obtain the variation sites of the sequencing fragments and the variation types of the variation sites. This application solves the problem in related technologies where the number of false positives during genome variation detection is too high, leading to inaccurate detection results.

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