发明名称 |
SEQUENCING ANALYSIS OF CIRCULATING DNA TO DETECT AND MONITOR AUTOIMMUNE DISEASES |
摘要 |
Systems, methods, and apparatuses are provided for diagnosing auto-immune diseases such as systemic lupus erythematosus (SLE) based on the sizes, methylation levels, and/or genomic characteristics of circulating DNA molecules. Patients provide blood or other tissue samples containing cell-free nucleic molecules for analysis. Massively parallel and/or methylation-aware sequencing can be used to determine the sizes and methylation levels of individual DNA molecules and identify the number of molecules originating from different genomic regions. A level of SLE can be estimated based on: the amount of molecules having sizes below a threshold value; the methylation level(s) of the entire genome or portions of the genome; correlations between the sizes and methylation levels of DNA molecules; and/or comparing the representation of DNA molecules in each of a plurality of genomic regions with a reference value for that region, and determining an amount of genomic regions having increased or decreased measured genomic representation. |
申请公布号 |
WO2015040591(A1) |
申请公布日期 |
2015.03.26 |
申请号 |
WO2014IB64682 |
申请日期 |
2014.09.20 |
申请人 |
THE CHINESE UNIVERSITY OF HONG KONG |
发明人 |
LO, YUK-MING DENNIS;CHIU, ROSSA WAI KWUN;CHAN, REBECCA WING YAN;TAM, LAI SHAN |
分类号 |
C12Q1/68 |
主分类号 |
C12Q1/68 |
代理机构 |
|
代理人 |
|
主权项 |
|
地址 |
|