Methods, compositions, kits, and uses for analysis of nucleic acids comprising repeating A/T-rich segments

    公开(公告)号:US11214829B2

    公开(公告)日:2022-01-04

    申请号:US15744149

    申请日:2016-07-22

    申请人: Asuragen, Inc.

    IPC分类号: C12Q1/68 C12Q1/6844

    摘要: Described herein are methods, compositions, kits, and uses thereof for analysis of nucleic acid segments comprising a repeating A/T-rich segment, wherein the repeating A/T-rich segment is: (i) a homopolymeric segment comprising at least 10 A residues, at least 10 T residues, or at least 10 U residues, wherein the at least 10 A, T, or U residues are consecutive or interrupted once by one to three other nucleotides; or (ii) a segment comprising (TnA)m, (ATn)m, (TAn)m, or (AnT)m, wherein n is 2 or greater and m is such that the length of the repeating A/T-rich segment is 10 or more residues.

    METHODS AND COMPOSITIONS FOR AMPLICON CONCATENATION

    公开(公告)号:US20210189384A1

    公开(公告)日:2021-06-24

    申请号:US17104665

    申请日:2020-11-25

    申请人: Asuragen, Inc.

    摘要: The present disclosure relates to methods and compositions for nucleic acid library preparation. In certain aspects, the present disclosure relates to methods of making a library of concatenated amplicons from a target nucleic acid. The present disclosure further relates to methods of using the methods and compositions described herein, e.g., in downstream applications such as sequencing (e.g., single-molecule sequencing), gene assembly, and/or structural variation characterization.

    Comprehensive FMR1 genotyping
    48.
    发明授权
    Comprehensive FMR1 genotyping 有权
    综合FMR1基因分型

    公开(公告)号:US09371560B2

    公开(公告)日:2016-06-21

    申请号:US13946544

    申请日:2013-07-19

    申请人: Asuragen, Inc

    IPC分类号: C12Q1/68 G06F19/18

    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。