Single-parent diploid analysis method and system for family high-throughput sequencing data

Abstract

The invention discloses a single-parent diploid analysis method and system for family high-throughput sequencing data, and belongs to the technical field of high-throughput sequencing, and the analysis method comprises the following steps: reading three VCF files of family high-throughput sequencing results; removing InDel mutation sites, and filtering data according to the mutation rate, the sequencing depth and the sequencing quality of each remaining SNP site; comparing the genotype coincidence characteristics of the first evidence and the parents of the first evidence, and calculating the mutation frequency of each SNP site of the first evidence through a frequency judgment method of a B allele; the parental source of the SNP site is judged through an analysis method, the analysis data is used for displaying the parental source of each chromosome and whether the chromosome is a single-parent diploid or not in a graphic mode through a computer system, meanwhile, the single-parent diploid is rapidly distinguished as a single-parent homo-diploid or a single-parent heterodiploid, a basis is provided for clinical decision making, the detection rate is increased, and the method is convenient to operate, rapid to master and high in practicability. And the practicability is high.

Description

technical field [0001] The invention relates to the field of data analysis of high-throughput sequencing technology, in particular to a uniparental diploid analysis method and system for family high-throughput sequencing data. Background technique [0002] 1. Uniparental diploid: [0003] Humans have 46 chromosomes. During meiosis, two chromosomes with the same trait and size will be paired, one from the father and one from the mother. The paired two chromosomes are called homologous chromosomes. Uniparental disomy (UPD) refers to the fact that some homologous chromosomes or some fragments on chromosomes of the offspring are inherited from one of the parents. Among them, two copies from the same chromosome are called uniparental homodisomy, and different copies from two chromosomes are called uniparental heterodisomy. The incidence of UPD in newborns is about 1 / 3500, and its pathogenic mechanism is usually that UPD leads to abnormal development, abnormal expression of gene...

AI Technical Summary

Problems solved by technology

[0010] The purpose of the present invention is to provide a uniparental diploid analysis method and system for high-throughput sequencing data of families, which solves the problem that the improved throughput sequencing detection results in the background technology do not report UPD analysis results, which leads to clinically inaccurate sequencing results. The problem of deviation in the interpretation of pathogenicity

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