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    Applications of single molecule sequencing
    1.
    发明申请
    Applications of single molecule sequencing 审中-公开
    单分子测序的应用

    公开(公告)号：US20060046258A1

    公开(公告)日：2006-03-02

    申请号：US11067102

    申请日：2005-02-25

    Applicant: Stanley Lapidus ,  Stephen Quake

    Inventor： Stanley Lapidus ,  Stephen Quake

    IPC: C12Q1/68

    CPC classification number: C12Q1/6886 ,  C12Q1/6869 ,  C12Q2600/156

    Abstract: The invention provides methods for determining the presence of a disease by comparing a sequence from a single target molecule with a predetermined sequence that is associated with a specific disease.

    Abstract translation: 本发明提供了通过将来自单个靶分子的序列与与特定疾病相关的预定序列进行比较来确定疾病存在的方法。

    Non-invasive fetal genetic screening by digital analysis
    2.
    发明授权
    Non-invasive fetal genetic screening by digital analysis 有权
    通过数字分析进行非侵入性胎儿遗传筛选

    公开(公告)号：US09441273B2

    公开(公告)日：2016-09-13

    申请号：US12816043

    申请日：2010-06-15

    Applicant: Stephen Quake ,  Hei-Mun Christina Fan

    Inventor： Stephen Quake ,  Hei-Mun Christina Fan

    IPC: C12Q1/68 ,  C12P19/34

    CPC classification number: C12Q1/6883 ,  C12Q1/6809 ,  C12Q1/6851 ,  C12Q1/6858 ,  C12Q1/6881 ,  C12Q2600/156 ,  C12Q2600/158 ,  Y10T436/143333 ,  C12Q2565/629 ,  C12Q2537/143 ,  C12Q2531/113 ,  C12Q2537/157 ,  C12Q2527/125 ,  C12Q2545/114 ,  C12Q2527/137

    Abstract: The present methods are exemplified by a process in which maternal blood containing fetal DNA is diluted to a nominal value of approximately 0.5 genome equivalent of DNA per reaction sample. Digital PCR is then be used to detect aneuploidy, such as the trisomy that causes Down Syndrome. Since aneuploidies do not present a mutational change in sequence, and are merely a change in the number of chromosomes, it has not been possible to detect them in a fetus without resorting to invasive techniques such as amniocentesis or chorionic villi sampling. Digital amplification allows the detection of aneuploidy using massively parallel amplification and detection methods, examining, e.g., 10,000 genome equivalents.

    Abstract translation: 本方法的例子是一种方法，其中将含有胎儿DNA的母体血液稀释成每反应样品约0.5个基因组当量DNA的标称值。 然后使用数字PCR来检测非整倍体，例如导致唐氏综合征的三体性。 由于非整倍体并不表现出序列变异，仅仅是染色体数量的变化，所以不可能在胎儿中检测它们，而不需要采用诸如羊膜穿刺或绒毛膜绒毛取样等侵入性技术。 数字扩增允许使用大规模并行扩增和检测方法检测非整倍体，检查例如10,000个基因组等同物。

    Non-invasive fetal genetic screening by digital analysis
    5.
    发明授权
    Non-invasive fetal genetic screening by digital analysis 有权
    通过数字分析进行非侵入性胎儿遗传筛选

    公开(公告)号：US07888017B2

    公开(公告)日：2011-02-15

    申请号：US11701686

    申请日：2007-02-02

    Applicant: Stephen Quake ,  Hei-Mun Christina Fan

    Inventor： Stephen Quake ,  Hei-Mun Christina Fan

    IPC: C12Q1/68 ,  C12P19/34

    CPC classification number: C12Q1/6883 ,  C12Q1/6809 ,  C12Q1/6851 ,  C12Q1/6858 ,  C12Q1/6881 ,  C12Q2600/156 ,  C12Q2600/158 ,  Y10T436/143333 ,  C12Q2565/629 ,  C12Q2537/143 ,  C12Q2531/113 ,  C12Q2537/157 ,  C12Q2527/125 ,  C12Q2545/114 ,  C12Q2527/137

    Abstract: The present methods are exemplified by a process in which maternal blood containing fetal DNA is diluted to a nominal value of approximately 0.5 genome equivalent of DNA per reaction sample. Digital PCR is then be used to detect aneuploidy, such as the trisomy that causes Down Syndrome. Since aneuploidies do not present a mutational change in sequence, and are merely a change in the number of chromosomes, it has not been possible to detect them in a fetus without resorting to invasive techniques such as amniocentesis or chorionic villi sampling. Digital amplification allows the detection of aneuploidy using massively parallel amplification and detection methods, examining, e.g., 10,000 genome equivalents.

    Abstract translation: 本方法的例子是一种方法，其中将含有胎儿DNA的母体血液稀释成每反应样品约0.5个基因组当量DNA的标称值。 然后使用数字PCR来检测非整倍体，例如导致唐氏综合征的三体性。 由于非整倍体并不表现出序列变异，仅仅是染色体数量的变化，所以不可能在胎儿中检测它们，而不需要采用诸如羊膜穿刺或绒毛膜绒毛取样等侵入性技术。 数字扩增允许使用大规模并行扩增和检测方法检测非整倍体，检查例如10,000个基因组等同物。

    Microfabricated rubber microscope using soft solid immersion lenses
    9.
    发明申请
    Microfabricated rubber microscope using soft solid immersion lenses 失效
    微型橡胶显微镜使用软固体浸没透镜

    公开(公告)号：US20050052754A1

    公开(公告)日：2005-03-10

    申请号：US10915943

    申请日：2004-08-10

    Applicant: Stephen Quake ,  Yann Gambin ,  Olivier Legrand

    Inventor： Stephen Quake ,  Yann Gambin ,  Olivier Legrand

    IPC: G02B1/04 ,  G02B21/00 ,  G02B21/33 ,  G02B3/00

    CPC classification number: G02B21/33 ,  G02B1/041 ,  G02B21/0008 ,  C08L83/04

    Abstract: Soft lithography with surface tension control is used to microfabricate extremely efficient solid immersion lenses (SILs) out of rubber elastomeric material for use in microscope type applications. In order to counteract the surface tension of the mold material in a negative mold that causes creep on a positive mold, material such as RTV is partially cured before use in order to allow the reticulation of polymer chains to change the viscosity of the uncured material in a controllable manner. In a specific embodiment, the techniques of soft lithography with surface tension control are used to make molded SILs out of the elastomer polydimethylsiloxane. The lenses achieve an NA in the range of 1.25. The principle of compound lens design is used to make the first compound solid immersion lens, which is corrected for higher light gathering ability and has a calculated NA=1.32. An important application of these lenses is integrated optics for microfluidic devices, specifically in a handheld rubber microscope for microfluidic flow cytometry.

    Abstract translation: 使用表面张力控制的软光刻技术可以将非常有效的固体浸没透镜（SIL）从橡胶弹性体材料中微调制成，用于显微镜型应用。 为了抵消在负模具中的模具材料的表面张力，其在正模具上引起蠕变，诸如RTV的材料在使用前被部分固化，以便使聚合物链的网状化以改变未固化材料的粘度 一种可控的方式。 在一个具体的实施方案中，使用表面张力控制的软光刻技术从弹性体聚二甲基硅氧烷中制备模制的SIL。 透镜实现NA在1.25的范围内。 复合透镜设计的原理是用于制造第一个复合固体浸没透镜，其被更正为更高的聚光能力，并且具有计算的NA = 1.32。 这些透镜的重要应用是用于微流体装置的集成光学器件，特别是用于微流体流式细胞术的手持式橡胶显微镜。

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