The invention discloses a next generation sequencing-based
point mutation detection filtering method and apparatus, and a storage medium. The method comprises the steps of performing comparison with files of a
reference genome by utilizing a to-be-detected sample, and extracting candidate
point mutation site sets with
variant allele frequencies exceeding a set threshold; preliminarily calculatingsupport numbers of
mutant bases and reference bases of candidate
point mutation sites, and filtering results with the
mutant support numbers lower than the set threshold and / or the
variant allele frequencies lower than the set threshold; performing detailed statistics on the candidate point
mutation sites and surrounding comparison information, wherein the information comprises at least one of thefollowing information: the support numbers of the
mutant bases and the reference bases of the candidate point
mutation sites, base and comparison quality, coverage depth, surrounding non reference base and
insertion / deletion statuses, and surrounding read quality; and according to the statistical information, filtering the results which do not meet set requirements to obtain a point
mutation detection result. While the resource demands and the detection speed are optimized, the sensitivity and specificity of point
mutation detection are improved.