Abstract: A method for detecting a uniparental disomy based upon NGS-trio and a use thereof, which belongs to the technical field of bioinformatics analysis is provided. The method can directly deduce the genetic origin of chromosome for proband through obtaining NGS-trio sequencing data, analyzing and judging, so as to directly judge whether UPD occurs in the sample (rather than indirectly deduce whether UPD occurs in the sample through LOH), thereby improving positive diagnosis rate without increasing any cost. Further, the method also can assist in the judgment of loss of heterozygosity of large fragments, and its resolution can reach 1 Mbp according to the density of mutation sites, showing excellent detection performance.

Abstract: A method of screening a pathogenic uniparental disomy and a use thereof is provided. The method includes the steps as follows: obtaining data: obtaining whole exome sequencing data; screening for sites: screening and obtaining mutations under pre-determined conditions; judging LOH: performing LOH judgement according to the mutations obtained above; and judging UPD: judging UPD according to the LOH judgement, wherein when an amount of chromosomes with LOH exceeds 2, a sample is judged as a consanguineous marriage; when there is a single copy of a region with LOH, a sample is judged as a fragment deletion; and other samples are judged as UPD when there are regions with LOH. In the method, specific mutated sites are screened out to perform LOH judgment, to finally obtain the results for UPD judgment. The method is based on the whole exome sequencing data, indicating the risk of pathogenic UPD alongside conventional screening of pathogenic mutations, without additional experiments and labor cost.

Abstract: Provided is a use of methylated locus in Sonic Hedgehog subgroup medulloblastoma, which relates to the technical field of tumor classification and detection. Specifically, the present disclosure provides a use of a reagent for detecting a methylation level of at least one genetic locus selected from ROBO4, OTX2OS1, AHRR, DKK4, or PART1 in a biological sample in the preparation of a diagnostic reagent or a diagnostic kit for Sonic Hedgehog subgroup medulloblastoma. Based on analysis and comparison of data from a large number of Sonic Hedgehog subgroup medulloblastoma samples and other medulloblastoma subgroups samples the methylation level of a genetic locus in the above genes can be used as a referenced indicator for the diagnosis of Sonic Hedgehog subgroup medulloblastoma. Therefore, only a few methylated loci are targeted and detected, and MB SHE can be classified and identified, thereby reducing diagnostic difficulty and cost of Sonic Hedgehog subgroup medulloblastoma.