发明名称 |
DETERMINING MUTATION BURDEN IN CIRCULATING CELL-FREE NUCLEIC ACID AND ASSOCIATED RISK OF DISEASE |
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. |
申请公布号 |
WO2016001760(A3) |
申请公布日期 |
2016.04.07 |
申请号 |
WO2015IB01676 |
申请日期 |
2015.07.02 |
申请人 |
BOREAL GENOMICS, INC. |
发明人 |
LEE, MARK;MARZIALI, ANDREA;WIGGIN, MATTHEW;PEL, JOEL;SOOD, NITIN |
分类号 |
C12Q1/68 |
主分类号 |
C12Q1/68 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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