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    Calibrated spectrographic imaging
    21.
    发明授权
    Calibrated spectrographic imaging 失效
    校准的光谱成像

    公开(公告)号：US5452723A

    公开(公告)日：1995-09-26

    申请号：US920135

    申请日：1992-07-24

    申请人： Jun Wu ,  Michael S. Feld ,  Richard P. Rava ,  Firooz Partovi

    发明人： Jun Wu ,  Michael S. Feld ,  Richard P. Rava ,  Firooz Partovi

    IPC分类号： A61B5/00 ,  G01N21/49 ,  G01N21/64 ,  A61B6/00

    CPC分类号： G01N21/6486 ,  A61B5/0059 ,  G01N21/49 ,  G01N21/65 ,  A61B2562/146

    摘要： The present application is directed to the use of photon migration analysis to provide a method of analyzing the diffuse reflectance, fluorescence, Raman or other types of spectra obtained from tissue. This procedure provides a means for processing spectral data such that the distortion in fluorescence spectra, for example, caused by the interplay of a variety of factors such as scattering, absorption, geometry and boundary conditions, can be precisely removed simply by measuring the diffuse reflectance spectrum as well as a second selected spectrum, such as fluorescence, and adjust the spectrum with the reflectance spectrum as described herein. By this procedure, the sample-to-sample variability is minimized. The intrinsic spectrum extracted by this procedure can be easily deconvoluted and provide quantitative information about the physicochemical composition of tissue. Analytical procedures for clinical diagnosis have been developed based on this method.

    摘要翻译： 本申请涉及使用光子迁移分析来提供从组织获得的漫反射，荧光，拉曼或其它类型的光谱的分析方法。 该过程提供了处理光谱数据的手段，使得例如由诸如散射，吸收，几何和边界条件等各种因素的相互作用引起的荧光光谱的失真可以通过简单地通过测量漫反射 光谱以及第二选定的光谱，例如荧光，并且如本文所述用反射光谱调节光谱。 通过这个过程，样品到样品的变异性最小化。 通过该方法提取的固有光谱可以容易地去卷积，并提供关于组织的物理化学组成的定量信息。 基于此方法开发了临床诊断分析手段。

    RESOLVING GENOME FRACTIONS USING POLYMORPHISM COUNTS
    22.
    发明申请
    RESOLVING GENOME FRACTIONS USING POLYMORPHISM COUNTS 有权
    使用多态性计算解决基因组分析

    公开(公告)号：US20120264121A1

    公开(公告)日：2012-10-18

    申请号：US13445778

    申请日：2012-04-12

    申请人： Richard P. Rava ,  Brian K. Rhees ,  John P. Burke

    发明人： Richard P. Rava ,  Brian K. Rhees ,  John P. Burke

    IPC分类号： C12Q1/68 ,  G06F19/20 ,  C12M1/34

    CPC分类号： G06F19/22 ,  C12Q1/6809 ,  C12Q1/6827 ,  C12Q1/6876 ,  C12Q1/6883 ,  C12Q2600/156 ,  G06F19/18 ,  G06F19/24 ,  G06F19/26 ,  C12Q2535/122 ,  C12Q2537/16 ,  C12Q2537/165

    摘要： Methods of reliably estimating genomic fraction (e.g., fetal fraction) from polymorphisms such as small base variations or insertions-deletions are disclosed. Sequenced data from a multigenomic source is used to determine allele counts for one or more of the polymorphisms. For one or more of the polymorphisms, zygosity is assigned, and genomic fraction is determined from the zygosity and allele counts. Certain embodiments employ SNPs as the relevant polymorphism. The disclosed methods can be applied as part of an intentional, pre-designed re-sequencing study targeted against known polymorphisms or can be used in a retrospective analysis of variations found by coincidence in overlapping sequences generated from maternal plasma (or any other setting where a mixture of DNA from several people are present).

    摘要翻译： 公开了从诸如小碱基变异或插入缺失的多态性可靠地估计基因组分数（例如胎儿级分）的方法。 来自多基因组源的序列数据用于确定一个或多个多态性的等位基因计数。 对于一个或多个多态性，分配接合性，并且从接合度和等位基因计数确定基因组分数。 某些实施方案使用SNP作为相关多态性。 所公开的方法可以作为针对已知多态性的有意的，预先设计的重排序研究的一部分来应用，或者可以用于回顾性分析由母体血浆（或任何其他设置 来自几个人的DNA的混合物存在）。

    PARTITION DEFINED DETECTION METHODS
    24.
    发明申请
    PARTITION DEFINED DETECTION METHODS 有权
    分区定义检测方法

    公开(公告)号：US20110177517A1

    公开(公告)日：2011-07-21

    申请号：US13009708

    申请日：2011-01-19

    申请人： Richard P. Rava ,  Brian K. Rhees ,  John P. Burke

    发明人： Richard P. Rava ,  Brian K. Rhees ,  John P. Burke

    IPC分类号： C12Q1/68

    CPC分类号： G06F19/22 ,  C12Q1/6827 ,  C12Q1/6883 ,  C12Q1/6886 ,  C12Q2600/156 ,  G06F17/10 ,  G06F17/11 ,  G06F19/12 ,  G06F19/18 ,  G06F19/24 ,  C12Q2537/16 ,  C12Q2537/165

    摘要： Methods are disclosed for resolving measurement problems such problems in measuring chromosomal copy number. Some disclosed methods involve first selecting a primary assay element characteristic to partition. Such characteristic may be a source of experimental variability such as the GC content of measured DNA sequences. Additionally, the disclosed methods may employ an abundance or copy number function to transform the assay element frequencies into an abundance, dose, copy number score, or the like. In some cases, the disclosed methods estimate an amount of certain fetal DNA in a sample. The methods can further compare the estimated amount to a measured amount of fetal DNA in the sample. The comparison can be used to determine the fetal sex or aneuploidy.

    摘要翻译： 公开了用于解决测量染色体拷贝数测量问题的方法。 一些公开的方法涉及首先选择分析特征的主要测定元件。 这种特征可能是实验变异性的来源，例如测量的DNA序列的GC含量。 另外，所公开的方法可以使用丰度或拷贝数函数将测定元件频率转换为丰度，剂量，拷贝数分数等。 在一些情况下，所公开的方法估计样品中某些胎儿DNA的量。 该方法可以进一步将估计量与样品中测量的胎儿DNA量进行比较。 比较可用于确定胎儿的性别或非整倍体。

    Photocleavable protecting groups and methods for their use
    25.
    发明授权
    Photocleavable protecting groups and methods for their use 有权
    可透光保护组及其使用方法

    公开(公告)号：US06566515B1

    公开(公告)日：2003-05-20

    申请号：US09525045

    申请日：2000-03-14

    申请人： Glenn H. McGall ,  Ngo Q. Nam ,  Richard P. Rava

    发明人： Glenn H. McGall ,  Ngo Q. Nam ,  Richard P. Rava

    IPC分类号： C07H2104

    CPC分类号： C07H21/00 ,  B01J2219/00432 ,  C07B2200/11 ,  C07H19/10 ,  C07H19/20 ,  C07H19/207 ,  C07K1/061 ,  C40B40/04 ,  C40B50/14 ,  C40B60/14 ,  G01N33/54353 ,  Y02P20/55

    摘要： Novel compounds are provided which are useful as linking groups in chemical synthesis, preferably in the solid phase synthesis of oligonucleotides and polypeptides. These compounds are generally photolabile and comprise protecting groups which can be removed by photolysis to unmask a reactive group. The protecting group has the general formula Ar—C(R1)(R2)—O—C(O)— wherein: Ar is an optionally substituted fused polycyclic aryl or heteroaromatic group or a vinylogous derivative thereof; R1 and R2 are independently H, optionally substituted alkyl, alkenyl or alkynyl, optionally substituted aryl or optionally substituted heteroaromatic, or a vinylogous derivative of the foregoing; and X is a leaving group, a chemical fragment linked to Ar—C(R1)(R2)—O—C(O)— via a heteroatom, or a solid support; provided that when Ar is 1-pyrenyl and R1 and R2 are H, X is not linked to Ar—C(R1)(R2)—O—C(O)— via a nitrogen atom. Preferred embodiments are those in which Ar is a fused polycyclic aromatic hydrocarbon and in which the substituents on Ar, R1 and R2 are electron donating groups. A particularly preferred protecting group is the “PYMOC” protecting group, pyrenylmethyloxycarbonyl, where Ar is pyrenyl and R1 and R2 are H. Also provided is a method of forming, from component molecules, a plurality of compounds on a support, each compound occupying a separate predefined region of the support, using the protected compounds described above.

    摘要翻译： 提供了新的化合物，其可用作化学合成中的连接基团，优选在寡核苷酸和多肽的固相合成中。 这些化合物通常是光不稳定的并且包括可以通过光解去除以揭示反应性基团的保护基团。 保护基具有通式Ar-C（R 1）（R 2）-OC（O） - ，其中：Ar是任选取代的稠合多环芳基或杂芳族基团或其杂原子衍生物; R 1和R 2独立地是H， 烷基，烯基或炔基，任选取代的芳基或任选取代的杂芳族，或前述的维果衍生物; 和X是离去基团，通过杂原子与固体载体连接至Ar-C（R 1）（R 2）-O-C（O） - 的化学片段; 条件是当Ar为1-芘基且R 1和R 2为H时，X不能通过氮原子与Ar-C（R 1）（R 2）-O-C（O） - 连接。 优选的实施方案是其中Ar是稠合多环芳烃并且其中Ar，R 1和R 2上的取代基是给电子基团的实施方案。 特别优选的保护基是“PYMOC”保护基团，芘基甲氧基羰基，其中Ar是芘基，R 1和R 2是H.另外提供了一种从成分分子在载体上形成多种化合物的方法， 使用上述保护的化合物分离预定区域的载体。