Analysis method for multiplex amplification STR data

Abstract

The invention discloses an analysis method for multiplex amplification STR data. The analysis method comprises the following steps: 1, site reference information: inputting data; 2, quality control (preprocessing): filtering data; 3, an STR typing method: a) searching for optimal matching, and b) referencing internal reference data. According to the method, high typing accuracy and timeliness can be guaranteed, CODIS system automatic conversion of STR loci can be achieved, the consistency of the STR loci and capillary electrophoresis data reaches up to 100% in the aspect of accuracy, and the analysis time is obviously shorter than that of mainstream analysis software in the market in the aspect of timeliness. Therefore, as an important supplementary method for whole genome sequence analysis, the process has great practical significance to forensic genetics.

Description

technical field [0001] The invention relates to the technical field of analysis of STR data, in particular to an analysis method for multiple amplification STR data. Background technique [0002] In recent years, deoxyribonucleic acid (DNA) sequencing technology has been developed by leaps and bounds, and the continuous development of next generation sequencing technology (Next generation sequencing) has made whole genome sequencing possible. However, due to the limitations of high cost and large data consumption, whole genome sequencing is not suitable for the analysis of complex repetitive DNA regions, including what we call short tandem repeats (STR). Therefore, taking multiplex PCR and probe capture as examples, many target sequence acquisition methods matching next-generation sequencing are also constantly maturing and developing. Compared with probe capture, multiplex polymerase chain reaction (PCR) has a better acquisition efficiency for STR sites. Therefore, the mu...

AI Technical Summary

Problems solved by technology

[0005] 1. Poor adaptability: the existing sequence analysis technology only targets whole-genome off-machine data, and lacks specific processing for multiple PCR sequencing data

[0006] 2. Accuracy: The STR database is based on the typing standard of the CODIS system, and the existing analysis data cannot match the capillary electrophoresis data

For example, the mainstream technology software lobSTR has the problem of low genome comparison rate and low accuracy

[0007] 3. Coverage: There are few analysis software for STR, and the update time is long, which cannot solve the problems of forensic practice in time

Images