公开(公告)号：WO2013190441A3

公开(公告)日：2014-02-27

申请号：PCT/IB2013054898

申请日：2013-06-14

Applicant: UNIV HONG KONG CHINESE ,  CHIU WAI KWUN ROSSA

Inventor： CHIU WAI KWUN ROSSA ,  LO YUK-MING DENNIS ,  CHAN KWAN CHEE ,  JIANG PEIYONG

IPC: C12Q1/68

CPC classification number: C12Q1/6886 ,  C12Q1/6827 ,  C12Q2600/112 ,  C12Q2600/156 ,  C12Q2535/122 ,  C12Q2537/16 ,  C12Q2539/107

Abstract: A frequency of somatic mutations in a biological sample (e.g., plasma or serum) of a subject undergoing screening or monitoring for cancer, can be compared with that in the constitutional DNA of the same subject. A parameter can derived from these frequencies and used to determine a classification of a level of cancer. False positives can be filtered out by requiring any variant locus to have at least a specified number of variant sequence reads (tags), thereby providing a more accurate parameter. The relative frequencies for different variant loci can be analyzed to determine a level of heterogeneity of tumors in a patient.

Abstract translation: 可以将经历筛选或监测癌症的受试者的生物样品（例如血浆或血清）中的体细胞突变的频率与同一受试者的结构DNA中的体细胞突变的频率进行比较。 一个参数可以从这些频率导出，用于确定癌症水平的分类。 可以通过要求任何变体轨迹至少具有指定数量的变体序列读取（标签）来过滤掉假阳性，从而提供更准确的参数。 可以分析不同变体基因座的相对频率，以确定患者肿瘤异质性水平。

公开(公告)号：WO2013132305A8

公开(公告)日：2013-11-21

申请号：PCT/IB2013000312

申请日：2013-03-08

Applicant: UNIV HONG KONG CHINESE

Inventor： LO YUK MING DENNIS ,  CHAN KWAN CHEE ,  ZHENG WENLI ,  JIANG PEIYONG ,  LIAO JIAWEI ,  CHIU WAI KWUN ROSSA

IPC: C12Q1/68 ,  G06F19/18 ,  G06F19/20

CPC classification number: G06F19/22 ,  C12Q1/6809 ,  C12Q1/6816 ,  C12Q1/6827 ,  C12Q1/6869 ,  G06F19/18 ,  G06F19/3431 ,  G06F19/345 ,  G16H50/20 ,  G16H50/30 ,  C12Q2535/122 ,  C12Q2537/16 ,  C12Q2537/165 ,  C12Q2539/107 ,  C12Q2525/204

Abstract: A fractional concentration of clinically-relevant DNA in a mixture of DNA from a biological sample is determined based on amounts of DNA fragments at multiple sizes. For example, the fractional concentration of fetal DNA in maternal plasma or tumor DNA in a patient's plasma can be determined. The size of DNA fragments in a sample is shown to be correlated with a proportion of fetal DNA and a proportion of tumor DNA, respectively. Calibration data points (e.g., as a calibration function) indicate a correspondence between values of a size parameter and the fractional concentration of the clinically-relevant DNA. For a given sample, a first value of a size parameter can be determined from the sizes of DNA fragments in a sample. A comparison of the first value to the calibration data points can provide the estimate of the fractional concentration of the clinically-relevant DNA.

Abstract translation: 基于多种大小的DNA片段的量确定来自生物样品的DNA的混合物中的临床相关DNA的分数浓度。 例如，可以确定患者血浆中母体血浆或肿瘤DNA中胎儿DNA的分数浓度。 显示样品中DNA片段的大小分别与胎儿DNA的比例和肿瘤DNA的比例相关。 校准数据点（例如，作为校准函数）指示尺寸参数的值与临床相关DNA的分数浓度之间的对应关系。 对于给定的样品，尺寸参数的第一个值可以根据样品中DNA片段的大小确定。 第一个值与校准数据点的比较可以提供临床相关DNA分数浓度的估计值。