Spatially distinguished, multiplex nucleic acid analysis of biological specimens

    公开(公告)号:US11613773B2

    公开(公告)日:2023-03-28

    申请号:US17834474

    申请日:2022-06-07

    摘要: A method for spatially tagging nucleic acids of a biological specimen, including steps of (a) providing a solid support comprising different nucleic acid probes that are randomly located on the solid support, wherein the different nucleic acid probes each includes a barcode sequence that differs from the barcode sequence of other randomly located probes on the solid support; (b) performing a nucleic acid detection reaction on the solid support to locate the barcode sequences on the solid support; (c) contacting a biological specimen with the solid support that has the randomly located probes; (d) hybridizing the randomly located probes to target nucleic acids from portions of the biological specimen; and (e) modifying the randomly located probes that are hybridized to the target nucleic acids, thereby producing modified probes that include the barcode sequences and a target specific modification, thereby spatially tagging the nucleic acids of the biological specimen.

    NON-INVASIVE PRENATAL DIAGNOSIS OF FETAL GENETIC CONDITION USING CELLULAR DNA AND CELL FREE DNA

    公开(公告)号:US20210032696A1

    公开(公告)日:2021-02-04

    申请号:US16947922

    申请日:2020-08-24

    申请人: Illumina, Inc.

    摘要: Disclosed are methods for determining at least one sequence of interest of a fetus of a pregnant mother. In various embodiments, the method can determine one or more sequences of interest in a test sample that comprises a mixture of fetal cellular DNA and mother-and-fetus cfDNA. In some embodiments, methods are provided for determining whether the fetus has a genetic disease. In some embodiments, methods are provided for determining whether the fetus is homozygous in a disease causing allele when the mother is heterozygous of the same allele. In some embodiments, methods are provided for determining whether the fetus has a copy number variation (CNV) or a non-CNV genetic sequence anomaly.

    NON-INVASIVE PRENATAL DIAGNOSIS OF FETAL GENETIC CONDITION USING CELLULAR DNA AND CELL FREE DNA
    5.
    发明申请
    NON-INVASIVE PRENATAL DIAGNOSIS OF FETAL GENETIC CONDITION USING CELLULAR DNA AND CELL FREE DNA 有权
    使用细胞DNA和细胞免费DNA进行基因遗传状态的非侵入性初步诊断

    公开(公告)号:US20160186253A1

    公开(公告)日:2016-06-30

    申请号:US14802873

    申请日:2015-07-17

    申请人: Illumina, Inc.

    IPC分类号: C12Q1/68 G06F19/22

    摘要: Disclosed are methods for determining at least one sequence of interest of a fetus of a pregnant mother. In various embodiments, the method can determine one or more sequences of interest in a test sample that comprises a mixture of fetal cellular DNA and mother-and-fetus cfDNA. In some embodiments, methods are provided for determining whether the fetus has a genetic disease. In some embodiments, methods are provided for determining whether the fetus is homozygous in a disease causing allele when the mother is heterozygous of the same allele. In some embodiments, methods are provided for determining whether the fetus has a copy number variation (CNV) or a non-CNV genetic sequence anomaly.

    摘要翻译: 公开了用于确定怀孕母亲的胎儿的至少一个感兴趣序列的方法。 在各种实施方案中,该方法可以测定包含胎儿细胞DNA和母亲和胎儿cfDNA的混合物的测试样品中的一种或多种感兴趣的序列。 在一些实施例中,提供了用于确定胎儿是否具有遗传性疾病的方法。 在一些实施方案中,提供了用于在母体是相同等位基因杂合的情况下,确定胎儿在导致等位基因的疾病中是否是纯合的方法。 在一些实施例中,提供了用于确定胎儿是否具有拷贝数变异(CNV)或非CNV遗传序列异常的方法。

    Spatially distinguished, multiplex nucleic acid analysis of biological specimens

    公开(公告)号:US11162132B2

    公开(公告)日:2021-11-02

    申请号:US17237670

    申请日:2021-04-22

    摘要: A method for spatially tagging nucleic acids of a biological specimen, including steps of (a) providing a solid support comprising different nucleic acid probes that are randomly located on the solid support, wherein the different nucleic acid probes each includes a barcode sequence that differs from the barcode sequence of other randomly located probes on the solid support; (b) performing a nucleic acid detection reaction on the solid support to locate the barcode sequences on the solid support; (c) contacting a biological specimen with the solid support that has the randomly located probes; (d) hybridizing the randomly located probes to target nucleic acids from portions of the biological specimen; and (e) modifying the randomly located probes that are hybridized to the target nucleic acids, thereby producing modified probes that include the barcode sequences and a target specific modification, thereby spatially tagging the nucleic acids of the biological specimen.

    NON-INVASIVE PRENATAL DIAGNOSIS OF FETAL GENETIC CONDITION USING CELLULAR DNA AND CELL FREE DNA

    公开(公告)号:US20180237852A1

    公开(公告)日:2018-08-23

    申请号:US15959093

    申请日:2018-04-20

    申请人: Illumina, Inc.

    摘要: Disclosed are methods for determining at least one sequence of interest of a fetus of a pregnant mother. In various embodiments, the method can determine one or more sequences of interest in a test sample that comprises a mixture of fetal cellular DNA and mother-and-fetus cfDNA. In some embodiments, methods are provided for determining whether the fetus has a genetic disease. In some embodiments, methods are provided for determining whether the fetus is homozygous in a disease causing allele when the mother is heterozygous of the same allele. In some embodiments, methods are provided for determining whether the fetus has a copy number variation (CNV) or a non-CNV genetic sequence anomaly.