Method, computing device and storage medium for determining the type of upd

Abstract

The present invention provides a method for determining a UPD type, a computing device and a computer-readable storage medium. The method comprises: based on sequencing sequence data about the proband, the father of the proband, and the mother of the proband, respectively, determining the same gene in the proband, the father of the proband, and the mother of the proband Each SNP site information in the sequence; based on the SNP site information, determine the first UPD type of each SNP site; determine the UPD region based on the first UPD type of each SNP site; the SNP of the proband Perform AF filtering at the site to determine the high-frequency mutation SNP site whose mutation frequency is greater than the mutation threshold of the proband; determine the ROH segment of the proband based on the high-frequency mutation SNP site of the proband; and determine the ROH fragment based on the proband The first UPD type of the proband and the ROH fragment of the proband determine the second UPD type of the proband.

Description

technical field [0001] The present invention generally relates to the field of biological information detection, and in particular, relates to a method for determining a UPD type, a computing device and a computer storage medium. Background technique [0002] Uniparental disomy (UPD) refers to an individual whose two homologous chromosomes come from the same parent. When UPD comes from the same chromosome in the same parent, it is called uniparental homodisomy (iUPD or isoUPD). When UPD arises from a pair of homologous chromosomes from the same parent, it is called uniparental heterodisomy (hUPD or hetUPD). In addition, according to the different parents of UPD origin, it is divided into maternal UPD (matUPD) and paternal UPD (patUPD). The UPD produced in a certain region of the chromosome due to crossover during meiosis is also called segmental UPD (segUPD). [0003] Not all UPDs are pathogenic, and when there are recessive genetic pathogenic loci or imprinting effects i...

AI Technical Summary

Problems solved by technology

The iUPD analyzed by this idea depends on the size of the ROH region, and the number of ROH detected by H3M2 is large, resulting in high false positives for iUPD

In addition, UPDio can only use MIE to infer the P value of the UPD of the entire chromosome. When segUPD occurs, the position of the UPD is not clearly given, and the user needs to judge from the original data.

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