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公开(公告)号：EP3325663A4
公开(公告)日：2018-07-25
申请号：EP16827235
申请日：2016-07-20
IPC分类号： C12Q1/68 , C12Q1/6883
CPC分类号： C12Q1/6886 , C12Q1/6883 , C12Q2600/154 , C12Q2600/156 , C12Q2600/172 , G06F19/22
摘要： Systems, apparatuses, and method are provided for determining the contributions of different tissues to a biological sample that includes a mixture of cell-free DNA molecules from various tissues types, e.g., as occurs in plasma or serum and other body fluids. Embodiments can analyze the methylation patterns of the DNA mixture (e.g., methylation levels at particular loci) for a particular haplotype and determine fractional contributions of various tissue types to the DNA mixture, e.g., of fetal tissue types or tissue types of specific organs that might have a tumor. Such fractional contributions determined for a haplotype can be used in a variety of ways.
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公开(公告)号：EP3169813A4
公开(公告)日：2018-01-03
申请号：EP15821804
申请日：2015-07-20
IPC分类号： C12Q1/68
CPC分类号： G06F19/18 , C12Q1/6809 , G06F19/22 , C12Q2523/125 , C12Q2535/122 , C12Q2537/165
摘要： The contributions of different tissues to a DNA mixture are determined using methylation levels at particular genomic sites. Tissue-specific methylation levels of M tissue types can be used to deconvolve mixture methylation levels measured in the DNA mixture, to determine fraction contributions of each of the M tissue types. Various types of genomic sites can be chosen to have particular properties across tissue types and across individuals, so as to provide increased accuracy in determining contributions of the various tissue types. The fractional contributions can be used to detect abnormal contributions of a particular tissue, indicating a disease state for the tissue. A differential in fractional contributions for different sizes of DNA fragments can also be used to identify a diseased state of a particular tissue. A sequence imbalance for a particular chromosomal region can be detected in a particular tissue, e.g., identifying a location of a tumor.
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