首页>
外国专利>
DETECTING SOMATIC SINGLE NUCLEOTIDE VARIANTS FROM CELL-FREE NUCLEIC ACID WITH APPLICATION TO MINIMAL RESIDUAL DISEASE MONITORING
DETECTING SOMATIC SINGLE NUCLEOTIDE VARIANTS FROM CELL-FREE NUCLEIC ACID WITH APPLICATION TO MINIMAL RESIDUAL DISEASE MONITORING
展开▼
机译:检测从无细胞核酸的体细胞单核苷酸变体,应用于最小的残留疾病监测
展开▼
页面导航
摘要
著录项
相似文献
摘要
The present disclosure provides a probabilistic model for accurate and sensitive somatic single nucleotide variant (SNV) detection in cell-free nucleic acid samples comprising a set of sequence data. A joint genotype may be determined for each locus in the set of sequence data, and germline mutations may be intrinsically removed. A set of filtrations can be applied to eliminate low quality somatic variant calls. Further, a global tumor cell-free deoxyribonucleic acid (cfDNA) fraction and overlapping read mates can be considered, thereby enabling accurate SNV detection and variant allele frequency estimation from samples with low tumor cfDNA fraction. A sensitive early detection of minimal residual disease (MRD) is designed by using the probabilistic model and the machine learning model for distinguishing true variants from sequencing errors.
展开▼