Method for calculating chromosome structure variation and single-parent diploid information

Abstract

The invention discloses a method for calculating chromosome structure variation and monoparental diploid information, which comprises the following steps of: S1, randomly selecting original sequencing files of ten thousands of all-foreign single samples, and sequencing matched bed files by using illumina; s2, on the basis of the selected ten thousands of all-out-of-all single samples, screening out representative heterozygous beads, and calculating a UPD baseline according to the homozygosity of each heterozygous bead; s3, comparing a test sample with the UPD baseline calculated in the step S2, and calculating to generate a corresponding UPD result; and S4, a UPD calculation result is visualized. According to the method, the variation possibly having chromosome deletion, repetition and single-parent diploid can be quickly and comprehensively locked, and the variation form of each chromosome is comprehensively displayed in a hidden Markov model prediction and data visualization mode, so that the maximum efficient analysis at present is realized.

Description

technical field [0001] The invention relates to the technical field of chromosome structure analysis, and more particularly to a method for calculating chromosome structure variation and uniparental diploid information. Background technique [0002] Whole-exome sequencing has become a common method for detecting human genetic diseases, covering nearly 6,000 genetic diseases. However, there are still huge challenges in the analysis of detection results. Among them, copy number variation is an important part of gene structure variation, which is caused by the rearrangement of the genome. Generally, it refers to the increase or decrease of the copy number of large fragments of the genome with a length of more than 1 kb, which is mainly manifested in the submicroscopic level of deletion (deletion). ) and duplication. Chromosomal uniparental diploidy abnormalities are often associated with familial genetic diseases. Each clinical sample analysis needs to analyze these three var...

AI Technical Summary

Problems solved by technology

Chromosomal uniparental diploid abnormalities are often related to family genetic diseases. The analysis of each clinical sample needs to analyze these three variations from different angles. Facing a large number of clinical samples, manual analysis requires a lot of time and effort.

[0003] At present, there are no all-external and CNVseq reports on the market that doctors want to see, and doctors can understand in seconds. In actual work, occasionally non-biological fathers participate in the inspection, which may cause errors. Variant sites considered to be "spontaneous mutations" may then be inappropriately overestimated for their pathogenicity classification

Images