COMPREHENSIVE FMR1 GENOTYPING
    4.
    发明申请
    COMPREHENSIVE FMR1 GENOTYPING 有权
    综合FMR1基因分析

    公开(公告)号:US20140024035A1

    公开(公告)日:2014-01-23

    申请号:US13946544

    申请日:2013-07-19

    IPC分类号: C12Q1/68

    CPC分类号: C12Q1/6844 G06F19/18

    摘要: Disclosed herein are methods for the automated reconstruction of a genotype of a gene, fragment, or genomic region using exhaustive enumeration. The methods can be used to reconstruct the genotype of any GC-rich sequence, such as the CGG repeat region in the 5′ UTR of FMR1 or the CCG repeat region in the 5′ UTR of FMR2. Also disclosed is an apparatus for use in conducting automated genotype reconstruction, as well as methods of diagnosis and treatment using exhaustive enumeration methods to reconstruct and identify genotypes associated with a disease or disorder.

    摘要翻译: 本文公开了使用详尽枚举来自动重建基因,片段或基因组区域的基因型的方法。 该方法可用于重建任何富含GC的序列的基因型,如FMR1的5'UTR中的CGG重复区或FMR2的5'UTR中的CCG重复区。 还公开了一种用于进行自动基因型重建的装置,以及使用穷举枚举方法来重建和鉴定与疾病或病症相关的基因型的诊断和治疗方法。