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Non-invasive determination of methylome of fetus or tumor from plasma

A methylation, group region technology, applied in the field of methylation pattern determination

Pending Publication Date: 2015-07-15
THE CHINESE UNIVERSITY OF HONG KONG
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Problems solved by technology

[0008] Despite decades of effort, there are no practical methods available to study the fetal or tumor methylome and monitor dynamic changes during pregnancy or during disease processes such as malignancies

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  • Non-invasive determination of methylome of fetus or tumor from plasma
  • Non-invasive determination of methylome of fetus or tumor from plasma
  • Non-invasive determination of methylome of fetus or tumor from plasma

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Experimental program
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Embodiment Construction

[0069] definition

[0070] A "methylome" provides a measure of the amount of DNA methylation at various sites or loci in a genome. A methylome may correspond to all of the genome, a large portion of the genome, or a relatively small portion of the genome. A "fetal methylome" corresponds to the methylome of a fetus of a pregnant female. The fetal methylome can be determined using a variety of fetal tissues or sources of fetal DNA, including placental tissue and cell-free fetal DNA in maternal plasma. A "tumor methylome" corresponds to the methylome of a tumor of an organism, such as a human. Tumor methylomes can be determined using cell-free tumor DNA in tumor tissue or maternal plasma. Fetal methylomes and tumor methylomes are examples of related methylomes. Other examples of relevant methylomes are those that can contribute DNA to bodily fluids (e.g. plasma, serum, sweat, saliva, urine, genital secretions, semen, fecal fluids, diarrheal fluids, cerebrospinal fluid, gastro...

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Abstract

Systems, methods, and apparatuses can determine and use methylation profiles of various tissues and samples. Examples are provided. A methylation profile can be deduced for fetal / tumor tissue based on a comparison of plasma methylation (or other sample with cell-free DNA) to a methylation profile of the mother / patient. A methylation profile can be determined for fetal / tumor tissue using tissue-specific alleles to identify DNA from the fetus / tumor when the sample has a mixture of DNA. A methylation profile can be used to determine copy number variations in genome of a fetus / tumor. Methylation markers for a fetus have been identified via various techniques. The methylation profile can be determined by determining a size parameter of a size distribution of DNA fragments, where reference values for the size parameter can be used to determine methylation levels. Additionally, a methylation level can be used to determine a level of cancer.

Description

[0001] Cross References to Related Applications [0002] This application is a PCT application claiming priority from the following applications: Filed on June 3, 2013, entitled "Tumor Detection In Plasma Using Methylation Status and Copy Number Copy Number), U.S. Provisional Patent Application No. 61 / 830,571; and the application titled "Non-Invasive Determination Of Methylome Of Fetus Or Tumor From Plasma" filed March 15, 2013 Tumor From Plasma), U.S. Application No. 13 / 842,209, filed September 20, 2012, entitled "Method for Determining Genome-Wide DNA Methylation Status of Placenta by Massively Parallel Sequencing of Maternal Plasma" Of Determining The Whole Genome DNA Methylation Status Of The Placenta By Massively Parallel Sequencing Of Maternal Plasma)" and claims the benefit of U.S. Provisional Patent Application No. 61 / 703,512 , said application is hereby incorporated by reference in its entirety for all purposes. technical field [0003] The present invention relate...

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q2600/154C12Q1/6881C12Q1/6886C12Q1/6869C12Q1/6883G16B20/00C12Q2600/112C12Q2523/125C12Q2535/122
Inventor 赵慧君陈君赐卢煜明伦妙芬江培勇陈渭雯
Owner THE CHINESE UNIVERSITY OF HONG KONG
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