Method and device for identifying and eliminating false positive in nucleic acid variation detection

Abstract

The invention discloses a method and a device for identifying and eliminating false positive in nucleic acid variation detection. The method of the invention comprises the steps of reading a variationdetecting software result file of a to-be-detected sample; reading a comparison file of a sequence read after eliminating PCR repetitions, and obtaining a read pair comparison result which is coveredby each variation site; determining whether the variation site is in a read pair overlap area of the DNA molecule, and performing analysis and statistics on the read pair which is covered by each abrupt change; performing statistics on each molecule and the read which support the abrupt change, and marking a characteristic which can be used for filtering the abrupt change; and filtering the variation site based on the characteristic value. According to the method of the invention, nucleic acid variation detecting results are filtered according to the distribution characteristic of nucleic acid variation false positive sites and true positive sites; not only can the false positive sites be effectively eliminated, but also accuracy of a nucleic acid variation detecting result is improved.

Description

technical field [0001] The present application relates to the field of nucleic acid variation detection, in particular to a method and device for identifying and eliminating false positives in nucleic acid variation detection. Background technique [0002] Nucleic acid variation or gene mutation refers to the change of base pair composition or arrangement order in the structure of the gene, including single nucleotide site variation (abbreviated SNV), insertion-deletion variation (abbreviated INDEL), frameshift mutation, etc. Nucleic acid variation is a ubiquitous phenomenon in nature. For the human genome, nucleic acid variation usually causes physiological or pathological changes; therefore, nucleic acid variation detection and related research are the focus of human genome research. [0003] At present, nucleic acid variation detection is mainly through high-throughput sequencing, and the sequencing results are compared with the reference genome to obtain nucleic acid var...

AI Technical Summary

Problems solved by technology

However, due to the influence of the existing sequencing library construction technology and sequencing technology, a large number of sequencing errors will be introduced during the sequencing process; at the same time, sequence comparison software may also generate alignment errors; thus causing the variation detection software to detect a large number of False-positive variant sites not only increase the workload of manual screening of false-positive sites in the later stage, but may also lead to too many false-positive sites in the final test report, affecting accuracy

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