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    Methods and Systems for Ultra-Sensitive Detection of Genomic Alterations
    1.
    发明申请
    Methods and Systems for Ultra-Sensitive Detection of Genomic Alterations 审中-公开

    公开(公告)号：US20180080068A1

    公开(公告)日：2018-03-22

    申请号：US15268349

    申请日：2016-09-16

    Applicant: Fluxion Biosciences, Inc.

    Inventor： Nicholas Kamps-Hughes ,  Cristian Ionescu-Zanetti

    IPC: C12Q1/68

    CPC classification number: C12Q1/6827 ,  C12Q1/6869 ,  G06F19/22 ,  C12Q2537/165

    Abstract: The invention discloses methods and apparatuses for the detection and diagnostics of genetic alterations/mutations in a target sample, which may be a solid tissue or a bodily fluid. A reference sample is also acquired, and the target and reference samples are replicated into multiple target and reference replicates. The replicates are sequenced, and the sequence data is analyzed based on a statistical test. The statistical test compares the measurements between the target and reference replicates at respective allelic indices. True positive calls are then made based on the results of the statistical testing, and the desired genetic alterations/mutations are identified at the base-pair level. The invention may be used for diagnostics related to cancer, auto-immune disease, organ transplant rejection, genetic fetal abnormalities and pathogens.

    Molecular Characterization Of Single Cells and Cell Populations For Non-Invasive Diagnostics
    2.
    发明申请
    Molecular Characterization Of Single Cells and Cell Populations For Non-Invasive Diagnostics 审中-公开
    单细胞和细胞群的分子表征用于非侵入性诊断

    公开(公告)号：US20160289754A1

    公开(公告)日：2016-10-06

    申请号：US15086592

    申请日：2016-03-31

    Applicant: Fluxion Biosciences, Inc.

    Inventor： Cristian Ionescu-Zanetti ,  Jeff Jensen ,  Michael Schwartz

    IPC: C12Q1/68

    CPC classification number: C12Q1/6869 ,  C12Q1/6806 ,  C12Q2563/159 ,  C12Q2565/514

    Abstract: The invention discloses diagnostic techniques based on single cell genomics, consisting of obtaining a blood sample, enriching a sub-population of cells present in the blood sample, sequestering individual cells or group of cells from the blood sample, obtaining sequencing data from the sequestered cells or group of cells, using genetic variant information to determine the provenance of the cells, and genetically analyzing the cells of the correct provenance to provide a diagnostic readout. Using the cell-based testing techniques of the invention, the number of false positives is greatly reduced when compared to cell-free DNA (cfDNA) based traditional testing techniques. The invention may be effectively employed for non-invasive prenatal (NIPT) diagnostics, oncological testing and other diagnostic procedures.

    Abstract translation: 本发明公开了基于单细胞基因组学的诊断技术，其包括获得血液样品，富集存在于血液样品中的细胞亚群，从血液样品中隔离单个细胞或一组细胞，从隔离细胞获得测序数据 或一组细胞，使用遗传变异信息来确定细胞的来源，以及遗传分析正确来源的细胞以提供诊断读数。 使用本发明的基于细胞的测试技术，与基于无细胞DNA（cfDNA）的传统测试技术相比，假阳性数量大大降低。 本发明可以有效地用于非侵入性产前（NIPT）诊断，肿瘤检测和其它诊断程序。

    Molecular characterization of single cells and cell populations for non-invasive diagnostics
    4.
    发明授权
    Molecular characterization of single cells and cell populations for non-invasive diagnostics 有权

    公开(公告)号：US11098352B2

    公开(公告)日：2021-08-24

    申请号：US16200868

    申请日：2018-11-27

    Applicant: Fluxion Biosciences, Inc.

    Inventor： Cristian Ionescu-Zanetti ,  Jeff Jensen ,  Michael Schwartz

    IPC: C12Q1/68 ,  C12Q1/6869 ,  C12Q1/6806

    Abstract: The invention discloses diagnostic techniques based on single cell genomics, consisting of obtaining a blood sample, enriching a sub-population of cells present in the blood sample, sequestering individual cells or group of cells from the blood sample, obtaining sequencing data from the sequestered cells or group of cells, using genetic variant information to determine the provenance of the cells, and genetically analyzing the cells of the correct provenance to provide a diagnostic readout. Using the cell-based testing techniques of the invention, the number of false positives is greatly reduced when compared to cell-free DNA (cfDNA) based traditional testing techniques. The invention may be effectively employed for non-invasive prenatal (NIPT) diagnostics, oncological testing and other diagnostic procedures.

    Methods and systems for ultra-sensitive detection of genomic alterations
    6.
    发明授权
    Methods and systems for ultra-sensitive detection of genomic alterations 有权

    公开(公告)号：US10294518B2

    公开(公告)日：2019-05-21

    申请号：US15268349

    申请日：2016-09-16

    Applicant: Fluxion Biosciences, Inc.

    Inventor： Nicholas Kamps-Hughes ,  Cristian Ionescu-Zanetti

    IPC: G06F19/22 ,  C12Q1/6827

    Abstract: The invention discloses methods and apparatuses for the detection and diagnostics of genetic alterations/mutations in a target sample, which may be a solid tissue or a bodily fluid. A reference sample is also acquired, and the target and reference samples are replicated into multiple target and reference replicates. The replicates are sequenced, and the sequence data is analyzed based on a statistical test. The statistical test compares the measurements between the target and reference replicates at respective allelic indices. True positive calls are then made based on the results of the statistical testing, and the desired genetic alterations/mutations are identified at the base-pair level. The invention may be used for diagnostics related to cancer, auto-immune disease, organ transplant rejection, genetic fetal abnormalities and pathogens.

    Molecular Characterization Of Single Cells and Cell Populations For Non-Invasive Diagnostics
    7.
    发明申请
    Molecular Characterization Of Single Cells and Cell Populations For Non-Invasive Diagnostics 审中-公开

    公开(公告)号：US20190093158A1

    公开(公告)日：2019-03-28

    申请号：US16200868

    申请日：2018-11-27

    Applicant: Fluxion Biosciences, Inc.

    Inventor： Cristian Ionescu-Zanetti ,  Jeff Jensen ,  Michael Schwartz

    IPC: C12Q1/6869 ,  C12Q1/6806

    Abstract: The invention discloses diagnostic techniques based on single cell genomics, consisting of obtaining a blood sample, enriching a sub-population of cells present in the blood sample, sequestering individual cells or group of cells from the blood sample, obtaining sequencing data from the sequestered cells or group of cells, using genetic variant information to determine the provenance of the cells, and genetically analyzing the cells of the correct provenance to provide a diagnostic readout. Using the cell-based testing techniques of the invention, the number of false positives is greatly reduced when compared to cell-free DNA (cfDNA) based traditional testing techniques. The invention may be effectively employed for non-invasive prenatal (NIPT) diagnostics, oncological testing and other diagnostic procedures.

    Molecular characterization of single cells and cell populations for non-invasive diagnostics
    8.
    发明授权
    Molecular characterization of single cells and cell populations for non-invasive diagnostics 有权

    公开(公告)号：US10167502B2

    公开(公告)日：2019-01-01

    申请号：US15086592

    申请日：2016-03-31

    Applicant: Fluxion Biosciences, Inc.

    Inventor： Cristian Ionescu-Zanetti ,  Jeff Jensen ,  Michael Schwartz

    IPC: B01L3/00 ,  C12Q1/6869 ,  C12Q1/6806

    Abstract: The invention discloses diagnostic techniques based on single cell genomics, consisting of obtaining a blood sample, enriching a sub-population of cells present in the blood sample, sequestering individual cells or group of cells from the blood sample, obtaining sequencing data from the sequestered cells or group of cells, using genetic variant information to determine the provenance of the cells, and genetically analyzing the cells of the correct provenance to provide a diagnostic readout. Using the cell-based testing techniques of the invention, the number of false positives is greatly reduced when compared to cell-free DNA (cfDNA) based traditional testing techniques. The invention may be effectively employed for non-invasive prenatal (NIPT) diagnostics, oncological testing and other diagnostic procedures.

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