Accuracy evaluation of homologous recombination deficiency detection
Objective To evaluate the accuracy of homologous recombination deficiency(HRD)detection kit by using the national reference materials of HRD.Methods Fragmentation,end repair,and mo-lecular tag addition were performed on the genomic DNA of HRD national reference materials to prepare a li-brary.The target DNA fragment in the library was hybridized with probes,captured,and enriched to obtain the captured library.The captured library was sequenced by dual-end on the MGISEQ-2000 gene sequencing platform.The sequencing data was analyzed,and the accuracy of the detection kit was calculated using the ref-erence sets of ASCNV,LOH,LST,and TAI of national reference materials.Results The copy number state accuracy was 83.1%,while the accuracy of LOH and TAI were 94.2%and 88.0%respectively.The accuracy of LST was 80.6%.The kit's accuracy met the requirements of national reference materials.The results of HRD statusindicate that each group of samples(HRD-X)with different concentration ratios of the national reference materials consistently showed the same HRD status.For example,the HRD-10 samples with DNA content per-centages of 30%,40%,and 50%all had HRD scores higher than 42 points,making them HRD positive.Conclusion The national reference materials for HRD have good applicability and can be used for evaluating the performance of HRD detection kits.
NETL
NSTL
万方数据
