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    SYSTEMS AND METHODS FOR HIGH-FIDELITY CAPTURE, THREADING, AND INFINITE-DEPTH SEQUENCING OF SINGLE NUCLEIC ACID MOLECULES
    5.
    发明公开
    SYSTEMS AND METHODS FOR HIGH-FIDELITY CAPTURE, THREADING, AND INFINITE-DEPTH SEQUENCING OF SINGLE NUCLEIC ACID MOLECULES 审中-公开

    公开(公告)号：US20240351029A1

    公开(公告)日：2024-10-24

    申请号：US18619661

    申请日：2024-03-28

    申请人： THE BOARD OF TRUSTEES OF THE UNIVERSITY OF ILLINOIS

    发明人： Aleksei Aksimentiev

    IPC分类号： B01L3/00 ,  C12Q1/6869

    CPC分类号： B01L3/502715 ,  C12Q1/6869 ,  B01L2200/0652 ,  B01L2300/0663 ,  B01L2300/0896 ,  B01L2400/0415

    摘要： Aspects of the subject disclosure may include, for example, an apparatus comprising: a membrane, wherein the membrane has a first side and a second side, wherein the membrane has a first pore disposed therein, wherein the first pore extends through the membrane from the first side of the membrane to the second side of the membrane, wherein the membrane has a second pore disposed therein, and wherein the second pore extends through the membrane from the first side of the membrane to the second side of the membrane; a first channel disposed on the first side of the membrane, wherein the first channel is along a first longitudinal axis; a second channel disposed on the first side of the membrane, wherein the second channel is along a second longitudinal axis, and wherein the first channel and the second channel are disposed side by side adjacent to each other; a third channel disposed on the second side of the membrane, wherein the third channel is along a third longitudinal axis, wherein the third channel is in first fluid communication with the first channel via the first pore, and wherein the third channel is in second fluid communication with the second channel via the second pore; and one or more sensors disposed at one or more locations to facilitate sequencing of a molecule that extends from the first channel, through the first pore across at least a portion of the third channel, and through the second pore into the second channel. Additional embodiments are disclosed.

    METHODS FOR DETECTING NEOPLASM IN PREGNANT WOMEN
    8.
    发明公开
    METHODS FOR DETECTING NEOPLASM IN PREGNANT WOMEN 审中-公开

    公开(公告)号：US20240336973A1

    公开(公告)日：2024-10-10

    申请号：US18294066

    申请日：2022-07-29

    申请人： Natera, Inc.

    发明人： Georgina GOLDRING ,  Wendy DiNONNO ,  Wenbo XU ,  Samantha LEONARD ,  Jeffrey MELTZER

    IPC分类号： C12Q1/6886 ,  C12Q1/6806 ,  C12Q1/6858 ,  C12Q1/6869 ,  G16B20/10 ,  G16B20/20

    CPC分类号： C12Q1/6886 ,  C12Q1/6806 ,  C12Q1/6858 ,  C12Q1/6869 ,  G16B20/10 ,  G16B20/20 ,  C12Q2600/156

    摘要： The invention provides methods for preparing a preparation of amplified DNA derived from a biological sample of a pregnant woman useful for identifying neoplasm in a pregnant woman, comprising: (a) isolating cell-free DNA from a biological sample of a pregnant woman comprising a mixture of fetal cell-free DNA and maternal cell-free DNA; (b) preparing a preparation of amplified DNA by performing targeted multiplex amplification on the isolated cell-free DNA to amplify at least 100 polymorphic loci; (c) analyzing the preparation of amplified DNA by sequencing the amplified DNA to obtain sequence reads of the at least 100 polymorphic loci and using the sequence reads to identify copy number variations (CNVs) in fetal and maternal chromosomes or chromosomal segments of interest, and identifying neoplasm in the pregnant woman by the presence of two or more of CNVs in the maternal chromosomes or chromosomal segments of interest.