COMPOSITIONS AND METHODS FOR DETECTING RARE SEQUENCE VARIANTS

    公开(公告)号:US20190119743A1

    公开(公告)日:2019-04-25

    申请号:US16172310

    申请日:2018-10-26

    Abstract: In some aspects, the present disclosure provides methods for identifying sequence variants in a nucleic acid sample. In some embodiments, a method comprises identifying sequence differences between sequencing reads and a reference sequence, and calling a sequence difference that occurs in at least two different circular polynucleotides, such as two circular polynucleotides having different junctions, or two different sheared polynucleotides as the sequence variant. In some aspects, the present disclosure provides compositions and systems useful in the described method.

    Methods and compositions for enrichment of amplification products

    公开(公告)号:US11578359B2

    公开(公告)日:2023-02-14

    申请号:US16927898

    申请日:2020-07-13

    Abstract: In some aspects, the present disclosure provides methods for enriching amplicons, or amplification products, comprising a concatemer of at least two or more copies of a target polynucleotide. In some embodiments, a method comprises sequencing the amplicons comprising at least two or more copies of a target polynucleotide. In some embodiments, the target polynucleotides comprise sequences resulting from chromosome rearrangement, including but not limited to point mutations, single nucleotide polymorphisms, insertions, deletions, and translocations including fusion genes. In some aspects, the present disclosure provides compositions and reaction mixtures useful in the described methods.

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