Abstract: The present invention relates to a field of medical molecular biology, and in particular, a marker for homologous recombination deficiency (HRD), a method and a system for detection thereof. In the present invention, the genome-wide single nucleotide polymorphisms (SNPs) with a high heterozygous rate suitable for the Chinese population are provided by screening SNP sites on the gnomAD records and over 300 Chinese whole-genome sequencing (WGS) data, thereby establishing a HRD scoring method. The HRD markers provided by the present invention allow HRD to be effectively scored, having a calculation result in high consistent with the WGS result.

Abstract: A sequencing data analysis method, a device and a computer-readable medium for microsatellite instability. The present invention can use NGS sequencing results to determine whether the microsatellite instability is present. The sequencing data analysis method can significantly improve detection sensitivity without reducing specificity, and can quickly and automatically evaluate a stable or unstable status of each MSI locus with high throughput, high sensitivity, and high specificity. By combining the statuses for all MSI loci in each sample, the samples can be comprehensively evaluated as MSS, MSI-L, or MSI-H.