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    LABELED ENZYME COMPOSITIONS, METHODS & SYSTEMS
    82.
    发明申请
    LABELED ENZYME COMPOSITIONS, METHODS & SYSTEMS 审中-公开
    标签酶组成，方法和系统

    公开(公告)号：WO2010111686A3

    公开(公告)日：2011-05-19

    申请号：PCT/US2010028967

    申请日：2010-03-26

    Applicant: LIFE TECHNOLOGIES CORP ,  NIKIFOROV THEO

    Inventor： NIKIFOROV THEO

    IPC: C12Q1/48 ,  C12N9/12 ,  G01N33/573 ,  G01N33/58

    CPC classification number: C12N9/96 ,  C07H19/20 ,  C12N9/1241 ,  C12N9/1252 ,  C12Q1/6818 ,  C12Q1/6869 ,  C12Y207/07 ,  C12Y207/07007 ,  G01N21/6428 ,  G01N33/582 ,  G01N2021/6432

    Abstract: Disclosed herein are conjugates comprising a biomolecule linked to a label that have biological activity and are useful in a wide variety of biological applications. For example, provided herein are labeled polymerase conjugates including a polymerase linked to one or more labels, wherein the conjugate has polymerase activity. Such conjugates can exhibit enhanced biological activity and/or superior detectability as compared to conventional labeled polymerases. Also disclosed herein are improved methods for preparing such conjugates, and methods and systems for using such conjugates in biological applications such as nucleotide incorporation, primer extension and single molecule sequencing.

    Abstract translation: 本文公开了包含连接到具有生物活性并可用于多种生物应用的标签的生物分子的缀合物。 例如，本文提供了标记的聚合酶缀合物，包括与一个或多个标记物连接的聚合酶，其中缀合物具有聚合酶活性。 与常规标记的聚合酶相比，这种缀合物可以表现出增强的生物学活性和/或优异的可检测性。 本文还公开了制备这种缀合物的改进方法，以及在生物应用中使用这种缀合物的方法和系统，例如核苷酸掺入，引物延伸和单分子测序。

    AMELOGENIN SNP ON CHROMOSOME X
    85.
    发明申请
    AMELOGENIN SNP ON CHROMOSOME X 审中-公开
    AMELOGENIN SNP染色体X

    公开(公告)号：WO2011020075A3

    公开(公告)日：2011-04-14

    申请号：PCT/US2010045544

    申请日：2010-08-13

    Applicant: LIFE TECHNOLOGIES CORP

    Inventor： MULERO JULIO ,  GREEN ROBERT ,  LAGACE ROBERT ,  HENNESSY LORI

    IPC: C12Q1/68 ,  C12P19/34 ,  G01N33/48

    CPC classification number: C07H21/04 ,  C12Q1/6879 ,  C12Q2600/156

    Abstract: Disclosed are methods for gender determination in the intron 1 region of the amelogenin locus and a newly discovered single nucleotide polymorphism (SNP) within the X chromosome of the amelogenin locus which can cause allelic dropout. Also disclosed are kits useful in gender determination.

    Abstract translation: 公开了用于在釉原蛋白基因座的内含子1区域中确定性别的方法以及可能导致等位基因辍学的釉原蛋白基因座的X染色体内新发现的单核苷酸多态性（SNP）的方法。 还公开了用于性别决定的试剂盒。

    COMPUTER IMPLEMENTED METHOD FOR INDEXING REFERENCE GENOME
    86.
    发明申请
    COMPUTER IMPLEMENTED METHOD FOR INDEXING REFERENCE GENOME 审中-公开
    用于索引基因组索引的计算机实现方法

    公开(公告)号：WO2010104608A3

    公开(公告)日：2010-12-16

    申请号：PCT/US2010000772

    申请日：2010-03-15

    Applicant: LIFE TECHNOLOGIES CORP ,  ROTH CHANTAL

    Inventor： ROTH CHANTAL

    IPC: G06F17/00 ,  G06F19/22

    CPC classification number: G06F19/22

    Abstract: A method for indexing a reference genome is provided. The method includes selecting a reference genome to index, calculating a first minimum index region size, assigning a first position number to a first index region of the reference genome, assigning a second position number to a second index region of the reference genome, and storing the association of the first and second position numbers to index regions in a hash table. The size of the first index region can be greater than or equal to the first minimum index region size. The second index region can overlap with at least one base included in the first index region. The first minimum index region size can be calculated based on the reference genome size. In yet other embodiments of the present teachings, a method for mapping a sequence read to a reference genome is provided wherein a sequence read is compared to the index regions stored in the indexing hash table, and the sequence read is mapped to and aligned against a location on the reference genome. Systems configured to carry out the methods are also provided.

    Abstract translation: 提供了用于索引参考基因组的方法。 该方法包括选择参考基因组来索引，计算第一最小索引区大小，将第一位置号分配给参考基因组的第一索引区，将第二位置号分配给参考基因组的第二索引区，以及存储 将第一和第二位置编号关联到散列表中的索引区域。 第一索引区域的大小可以大于或等于第一最小索引区域大小。 第二索引区域可以与第一索引区域中包括的至少一个基底重叠。 可以基于参考基因组大小来计算第一最小索引区域大小。 在本教导的其他实施例中，提供了一种用于将读取的序列映射到参考基因组的方法，其中将序列读取与存储在索引化哈希表中的索引区域进行比较，并且将序列读取映射到并与 在参考基因组上的位置。 还提供了配置为执行这些方法的系统。

    METHODS, COMPOSITIONS, AND KITS FOR DETECTING ALLELIC VARIANTS
    88.
    发明申请
    METHODS, COMPOSITIONS, AND KITS FOR DETECTING ALLELIC VARIANTS 审中-公开
    用于检测等位变体的方法，组合物和试剂盒

    公开(公告)号：WO2010077324A2

    公开(公告)日：2010-07-08

    申请号：PCT/US2009006652

    申请日：2009-12-17

    Applicant: LIFE TECHNOLOGIES CORP ,  CHEN CAIFU ,  TAN RUOYING

    Inventor： CHEN CAIFU ,  TAN RUOYING

    IPC: C12Q1/68 ,  C12N15/11

    CPC classification number: C12Q1/6886 ,  C07H21/04 ,  C12Q1/6858 ,  C12Q2600/156 ,  C12Q2600/172 ,  C12Q2561/113 ,  C12Q2561/101 ,  C12Q2537/161

    Abstract: In some embodiments, the present inventions relates generally to compositions, methods and kits for use in discriminating sequence variation between different alleles. More specifically, in some embodiments, the present invention provides for compositions, methods and kits for quantitating rare (e.g., mutant) allelic variants, such as SNPs, or nucleotide (NT) insertions or deletions, in samples comprising abundant (e.g., wild type) allelic variants with high specificity and selectivity. In particular, in some embodiments, the invention relates to a highly selective method for mutation detection referred to as competitive allele-specific TaqMan PCR ("cast-PCR").

    Abstract translation: 在一些实施方案中，本发明一般涉及用于区分不同等位基因之间的序列变异的组合物，方法和试剂盒。 更具体而言，在一些实施方案中，本发明提供了用于定量包含丰富（例如野生型）的样品中的罕见（例如，突变）等位基因变体例如SNP或核苷酸（NT）插入或缺失的组合物，方法和试剂盒 ）具有高特异性和选择性的等位基因变体。 特别地，在一些实施方案中，本发明涉及用于突变检测的高度选择性方法，称为竞争性等位基因特异性TaqMan PCR（“cast-PCR”）。

    SYSTEMS AND METHODS FOR SIGNAL NORMALIZATION USING RAMAN SCATTERING
    90.
    发明申请
    SYSTEMS AND METHODS FOR SIGNAL NORMALIZATION USING RAMAN SCATTERING 审中-公开
    使用拉曼散射信号正规化的系统和方法

    公开(公告)号：WO2010034017A3

    公开(公告)日：2010-06-17

    申请号：PCT/US2009057914

    申请日：2009-09-22

    Applicant: LIFE TECHNOLOGIES CORP ,  SAGATELYAN DMITRY

    Inventor： SAGATELYAN DMITRY

    IPC: G01N21/65 ,  G01J3/44 ,  G01N33/483

    CPC classification number: G01N27/44721 ,  G01J3/28 ,  G01J3/44 ,  G01N21/274 ,  G01N21/6452 ,  G01N21/65

    Abstract: Systems and methods for normalizing signals from detection zones of a biological analysis device are disclosed. In certain embodiments, signals from a plurality of detection zones in a capillary electrophoresis device are normalized based on detection and analysis of a Raman line resulting from Raman scattering of excitation light from the buffer solution in the detection zones. Such normalization can account for systematic variations that, if not corrected, do not allow quantitative analysis of results from different capillaries. In certain embodiments, such normalization can be achieved using the same excitation light and detection zone as used for detecting analyte samples such as dye-labeled DNA fragments. Further, such normalization can be incorporated into an existing calibration file, such that capillary-to-capillary systematic variations can be corrected with minimum or no modifications to existing hardware and/or data collection software.

    Abstract translation: 公开了用于对生物分析装置的检测区域进行信号归一化的系统和方法。 在某些实施方案中，来自毛细管电泳装置中的多个检测区域的信号基于检测和分析由检测区域中的缓冲溶液引起的激发光的拉曼散射而产生的拉曼线的归一化。 这种归一化可以解释系统的变化，如果不纠正，不允许定量分析来自不同毛细血管的结果。 在某些实施方案中，可以使用与用于检测分析物样品（例如染料标记的DNA片段）相同的激发光和检测区域来实现这种归一化。 此外，这种标准化可以被并入到现有的校准文件中，使得毛细血管与毛细管系统的变化可以通过对现有的硬件和/或数据收集软件进行最少的或者没有的修改来校正。

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