Screening device of pathogenic uniparental disomy, storage medium and processor

Abstract

The invention relates to a screening device of a pathogenic uniparental disomy, a storage medium and a processor, wherein the screening device, the storage medium and the processor belong to the fieldof gene detecting technology. The screening device comprises the components of a data acquisition module which is used for acquiring whole exome sequencing data; a site screening module which is screening a preset-condition mutation; an LOH determining module which is used for performing LOH determining according to the obtained mutation condition; and a UPD determining module which is used for determining the UPD according to the LOH and determines a close relative relation when the number of chromosomes with LOH is higher than 2; determines fragment deletion when the fragment with LOH is asingle copy; and determines other fragments with LOH as UPD. The screening device performs LOH determining and finally obtains a UPD determining result through screening the specific mutation site. Based on whole exome sequencing data, a risk of pathogenic UPD existence can be reminded in testing routine pathogenic mutations, and furthermore no additional experiment or manpower cost is required.

Description

technical field [0001] The invention relates to the technical field of gene detection, in particular to a screening device, storage medium and processor for pathogenic uniparental diploids. Background technique [0002] Genomic imprinting, also known as genetic imprinting, is a genetic process that marks a gene or genome domain on its parental source information through biochemical pathways. Such genes are called imprinted genes, and the expression of such genes depends on the source of their chromosomes (paternal or maternal) and whether the gene is silenced on the chromosome of its origin (the silencing mechanism is mainly methylation). Some imprinted genes are expressed only from the maternal chromosome, while others are expressed only from the paternal chromosome. [0003] In normal diploid, a pair of homologous chromosomes comes from the father and mother, respectively, and uniparental disomy (UniParental Disomy, referred to as UPD) refers to a pair of homologous chrom...

AI Technical Summary

Problems solved by technology

Among them, the method of detecting methylation level is to detect whether the methylation level of the same section of a pair of homologous chromosomes is consistent. However, the method of methylation can only deal with small fragments of chromosomes, and different regions need to be designed differently. Experiments with low efficiency and slow speed are not suitable for genome-wide screening

However, using the SNP chip to detect whether there are continuous large fragment homozygous sites has the disadvantage of high cost of the SNP chip method, and its target probe is a polymorphic site, which cannot detect other small pathogenic mutations at the same time ( point mutations, small indels, etc.)

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