Abstract: A method and a kit for determining genome instability based on next generation sequencing (NGS) are disclosed. The new method is used to determine whether there is homologous recombination defect by calculating a comprehensive value of one or more of pathogenic germline and somatic mutations, such as SNV, indels, and CNVs, and Biallelic germline and somatic mutations, pathogenic mutational signature, copy number variation (CNV) in homologous recombination repair (HRR) gene, genomic structural variation and genome instability. The genomics DNA is interrupted and added with an A adapter; then corresponding polymerase chain reaction (PCR) is conducted, and Whole genome sequencing is performed; the hybrid capture is conducted with designed probes of HRR genes and SNPs, and a captured DNA library is subjected to amplification and library sequencing; and then professional bioinformatics software is used for evaluation to determine the homologous recombination deficiency (HRD) status.

Abstract: Methods are disclosed for determining the minimal residual cancer status of an individual utilizing assays that detect cancer associated genetic variation in extracellular DNA. The disclosed methods provide for personalized cancer detection based on the genetic profile of solid cancer tissue of an individual under study. The disclosed methods further provide for noise reduction in the sequencing of extracellular DNA and reduced false positive rates in minimal residual cancer status determination.

Abstract: Methods are disclosed for determining the minimal residual cancer status of an individual utilizing assays that detect cancer associated genetic variation in extracellular DNA. The disclosed methods provide for personalized cancer detection based on the genetic profile of solid cancer tissue of an individual under study. The disclosed methods further provide for noise reduction in the sequencing of extracellular DNA and reduced false positive rates in minimal residual cancer status determination.

Abstract: Embodiments of the invention provides methods for determining a methylation score of DNA and determining a ctDNA Fraction (CTDF) value. Additional embodiments are as described herein.

Abstract: Disclosed are a next generation sequencing-based detection panel for glioma, a detection kit, a detection method and an application thereof. The detection panel contains glioma-related genes and loci, wherein the glioma-related genes and loci contain SNP locus on chromosome 1, SNP locus on chromosome 19, MGMT, ATRX, H3F3A, ACVR1, CTC, HIST1H3B, MLH1, PLCG1, SMO, AKT1, CTNNB1, HIST1H3C, MSH2, PMS2, TERT, ATRX, DAXX, HRAS, MSH6, PPMID, TP53, BCOR, DDX3X, IDH1, MYC, PTCH1 and the like.

Abstract: A device and a method for detecting tumor mutation burden (TMB) based on capture sequencing are disclosed. The device includes: a panel design module configured to uniformly add population single-nucleotide polymorphism (SNP) sites to a genome and screen out gene regions that show the highest consistency with whole exome sequencing (WES); a data acquisition module configured to acquire tissue and plasma samples of a target object and acquire sequencing data of the samples; an alignment module configured to align the sequencing data with a reference genome to acquire mutation data results; a somatic mutation analysis module configured to perform somatic analysis on the mutation data results to obtain somatic mutation results; a filtering module configured to remove unreal mutation sites from the somatic mutation results; and a calculation module configured to calculate the TMB.

Abstract: A method and a kit for determining genome instability based on next generation sequencing (NGS) are disclosed. The new method is used to determine whether there is homologous recombination defect by calculating a comprehensive value of one or more of pathogenic germline and somatic mutations, such as SNV, indels, and CNVs, and Biallelic germline and somatic mutations, pathogenic mutational signature, copy number variation (CNV) in homologous recombination repair (HRR) gene, genomic structural variation and genome instability. The genomics DNA is interrupted and added with an A adapter; then corresponding polymerase chain reaction (PCR) is conducted, and Whole genome sequencing is performed; the hybrid capture is conducted with designed probes of HRR genes and SNPs, and a captured DNA library is subjected to amplification and library sequencing; and then professional bioinformatics software is used for evaluation to determine the homologous recombination deficiency (HRD) status.