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    GC Wave Correction for Array-Based Comparative Genomic Hybridization
    3.
    发明申请
    GC Wave Correction for Array-Based Comparative Genomic Hybridization 审中-公开
    基于阵列的比较基因组杂交的GC波形校正

    公开(公告)号：US20120035860A1

    公开(公告)日：2012-02-09

    申请号：US13097845

    申请日：2011-04-29

    申请人： Viatcheslav R. Akmaev ,  Angela Leo ,  Thomas Scholl

    发明人： Viatcheslav R. Akmaev ,  Angela Leo ,  Thomas Scholl

    IPC分类号： G06F19/18

    CPC分类号： C12Q1/6832 ,  C12Q1/6809 ,  G16B25/00 ,  C12Q2537/16 ,  C12Q2537/165 ,  C12Q2539/115

    摘要： The present invention provides, among other things, new methods for optimizing comparative genomic hybridization (CGH) data analysis. In particular, the methods of the invention provide increased sensitivity and specificity due to the implemented individual chromosome-based GC-wave correction. In certain embodiments, the log ratios of probes derived from each chromosome are corrected based on the chromosome's GC content slope, and certain selected chromosomes undergo chromosomal median adjustment. As a result, the log ratios of the probes on the array are normalized to be closer to zero (0) for diploid regions and thus, the GC waves are substantially reduced, resulting in a reduced false positive rate. Systems, computer readable media, and kits for use in the optimized CGH methods also are provided.

    摘要翻译： 本发明尤其提供了用于优化比较基因组杂交（CGH）数据分析的新方法。 特别地，本发明的方法由于实施的基于单个染色体的GC波校正而提供了增加的灵敏度和特异性。 在某些实施方案中，基于染色体的GC含量斜率校正衍生自每个染色体的探针的对数比，并且某些选定的染色体经历染色体中位数调整。 结果，将阵列上的探针的对数比归一化为对于二倍体区域更接近零（0），因此，GC波被显着减少，导致假阳性率降低。 还提供了用于优化的CGH方法的系统，计算机可读介质和套件。

    Identification of Differentially Represented Fetal or Maternal Genomic Regions and Uses Thereof
    4.
    发明申请
    Identification of Differentially Represented Fetal or Maternal Genomic Regions and Uses Thereof 审中-公开
    鉴别差异代谢胎儿或母体基因组区域及其用途

    公开(公告)号：US20120021919A1

    公开(公告)日：2012-01-26

    申请号：US13188794

    申请日：2011-07-22

    申请人： Thomas Scholl ,  Viatcheslav R. Akmaev

    发明人： Thomas Scholl ,  Viatcheslav R. Akmaev

    IPC分类号： C40B20/00 ,  C40B30/04 ,  G01N33/53 ,  C12Q1/68

    CPC分类号： C12Q1/6876 ,  C12Q2600/158

    摘要： The present invention provides a novel approach for identification and characterization of differentially represented fetal or maternal genomic regions in maternal circulation. Identification of overrepresented fetal genomic regions in the maternal circulation according to the present invention permit accurate analysis of fetal DNA without the need for enrichment or purification, which provides a simpler, more accurate and efficient prenatal diagnosis in early pregnancy. The present invention is particularly useful for noninvasive prenatal diagnosis during early pregnancy (e.g., during the first trimester).

    摘要翻译： 本发明提供了用于鉴别和表征母体循环中差异表达的胎儿或母体基因组区域的新方法。 根据本发明，在母体循环中代表过量的胎儿基因组区域的鉴定允许胎儿DNA的准确分析，而不需要富集或纯化，其在早期怀孕中提供更简单，更准确和有效的产前诊断。 本发明特别可用于早期怀孕期间的非侵入性产前诊断（例如，在妊娠前期）。