- 专利标题: SYSTEM AND METHOD FOR COPY NUMBER VARIANT ERROR CORRECTION
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申请号: US17628827申请日: 2020-07-22
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公开(公告)号: US20220262461A1公开(公告)日: 2022-08-18
- 发明人: Timothy Rayner , Peter Fox , Suzanne Drury , Nicholas Lench
- 申请人: CONGENICA LTD.
- 申请人地址: GB Cambridge
- 专利权人: CONGENICA LTD.
- 当前专利权人: CONGENICA LTD.
- 当前专利权人地址: GB Cambridge
- 优先权: GB1910478.5 20190722,GB1916002.7 20191104
- 国际申请: PCT/GB2020/051753 WO 20200722
- 主分类号: G16B20/10
- IPC分类号: G16B20/10 ; G16B50/30
摘要:
A system for managing a CNV reference panel is disclosed, wherein the system includes a database arrangement configured to store a plurality of sample genomic DNA sequences and metadata associated with each of plurality of sample genomic DNA sequences. The system further includes a computing arrangement communicatively coupled to the database arrangement. The computing arrangement is configured to render a user interface to receive a target genomic DNA sequence along with interpretation request for calling CNVs in target genomic DNA sequence. The computing arrangement compares the plurality of characteristic attributes in the interpretation request with the metadata associated with each of plurality of sample genomic DNA sequences. Furthermore, the computing arrangement identifies a set of sample genomic DNA sequences as a reference panel, based on the comparison. Moreover, the computing arrangement utilise the reference panel for calling CNVs in the target genomic DNA sequence.
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