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DETERMINING MUTATION BURDEN IN CIRCULATING CELL-FREE NUCLEIC ACID AND ASSOCIATED RISK OF DISEASE
DETERMINING MUTATION BURDEN IN CIRCULATING CELL-FREE NUCLEIC ACID AND ASSOCIATED RISK OF DISEASE
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机译:确定循环无细胞核酸中的突变负担和相关的疾病风险
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摘要
The invention generally relates to methods of assessing an individual's risk of developing a disease associated with accumulation of DNA mutations by determining the mutation burden in their circulating cell-free nucleic acid relative to a reference sequence. The invention further relates to establishing a score indicative of the individual's risk by assessing the individual's mutation burden against a mutation burden continuum containing various thresholds associated with different degrees of risk. The reference sequence and the continuum may be constructed from a variety of sources. In certain aspects, methods of the invention relate to compilation of a database of mutation burdens for individuals along with population characteristics for each individual.
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