Processing method for high-throughput sequencing information of human short tandem repeat

Abstract

The invention discloses a processing method for high-throughput sequencing information of human short tandem repeat and belongs to the field of biological detection. The method comprises the steps that sequences with a preset sequencing length in STR high-throughput sequencing information of a single chip are reserved, and first sequences are formed; the first sequences are classified into different sample folders according to sample label information, the first sequences are reclassified into different STR locus folders according to STR target fragment specific primer information, and second sequences are formed; stepped reference sequences for different STR loci are established, the second sequences are compared with sequences of corresponding STR loci in the second sequences, and third sequences with the sequence similarity greater than or equal to 90% are reserved; and the threshold value of the number of sample sequencing entries is set to be 1,000, the threshold value of the number of locus sequencing entries is set to be 50, the threshold value of the number of typing sequencing entries in the loci is set to be 5, the threshold value of the number of the typing sequencing entries in the loci and the number of the locus sequencing entries is set to be 40%, and sequences with threshold values greater than or equal to the threshold values in the third sequences are screened to obtain an STR typing result.

Description

technical field [0001] The invention relates to the field of biological detection, in particular to a method for processing high-throughput sequencing information of human short-segment tandem repeat sequences. Background technique [0002] Short tandem repeats (short tandem repeats, referred to as STR) are a type of polymorphic genetic marker system that widely exists in human chromosomal DNA. Small (2-7bp) and the length of the amplified products is less than 500bp, and the number of allelic sites represents the number of sequence repetitions. The allelic fragment lengths of STR loci are concentrated, so multiple STR loci can be amplified multiple times. Multiple STR loci are compounded and amplified, and the cumulative identification ability can approach or reach the level of DNA fingerprint, which is the most widely used DNA fingerprint marker in modern forensic medicine. [0003] Since the 1990s, the general detection method for STR is to detect the genotypes of about...

AI Technical Summary

Problems solved by technology

However, this method also has defects due to technical limitations, mainly including: (1) Due to the mutual interference of fluorescent markers and the limitations of capillary length and imaging techniques, the number of analyzed loci has been limited. It is difficult to further greatly improve; (2) Since the object of analysis is the length of each fragment, it is impossible to further detect the slight difference in the primary structure of the nucleic acid that makes up the fragment, thus limiting the resolution of detection; (3) the peak width is affected by electrophoresis Due to the influence of conditions, it is difficult to distinguish when the number of bases differs by 1-2bp

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