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公开(公告)号：US11200963B2
公开(公告)日：2021-12-14
申请号：US15661804
申请日：2017-07-27
申请人： Sequenom, Inc.
发明人： Amin Mazloom , Cosmin Deciu , Chen Zhao , Tong Liu , Yijin Wu
摘要： Technology provided herein relates in part to non-invasive classification of one or more genetic copy number alterations (CNAs) for a test sample. Certain methods include sampling a quantification of sequence reads from parts of a genome, generating a confidence determination, and using the confidence determination to enhance classification. Technology provided herein is useful for classifying a genetic CNA for a sample as part of non-invasive pre-natal (NIPT) testing and oncology testing, for example.
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公开(公告)号：US20220093207A1
公开(公告)日：2022-03-24
申请号：US17544537
申请日：2021-12-07
申请人： Sequenom, Inc.
发明人： Amin Mazloom , Cosmin Deciu , Chen Zhao , Tong Liu , Yijin Wu
摘要： Technology provided herein relates in part to non-invasive classification of one or more genetic copy number alterations (CNAs) for a test sample. Certain methods include sampling a quantification of sequence reads from parts of a genome, generating a confidence determination, and using the confidence determination to enhance classification. Technology provided herein is useful for classifying a genetic CNA for a sample as part of non-invasive pre-natal (NIPT) testing and oncology testing, for example.
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公开(公告)号：US20240141422A1
公开(公告)日：2024-05-02
申请号：US18500812
申请日：2023-11-02
申请人： Sequenom, Inc.
发明人： Chen Zhao , Cosmin Deciu , Eyad Almasri , Tong Liu
IPC分类号： C12Q1/6869 , C12Q1/6827 , G16B20/00 , G16B20/10 , G16B20/20 , G16B30/00 , G16B30/10 , G16B40/00 , G16H50/30
CPC分类号： C12Q1/6869 , C12Q1/6827 , G16B20/00 , G16B20/10 , G16B20/20 , G16B30/00 , G16B30/10 , G16B40/00 , G16H50/30 , C12Q2535/122
摘要： Techniques are described for identifying a genetic variant in a test sample by comparing sequences reads obtained from the test sample to unique k-mers that are representative of a target genomic region. In one particular aspect, a method is described that includes generating a dictionary of a target genomic region having a set of unique k-mers by: accessing a sequence of the target genomic region, determining a set of k-mers for the target genomic region, comparing the set of k-mers for the target genomic region with one or more sets of k-mers for non-target genomic regions, and selecting the unique k-mers that do not appear in the one or more sets of k-mers for non-target genomic regions. The dictionary can then be used to identify a genetic variant in a test sample by comparing sequences reads obtained from the test sample to the unique k-mers in the dictionary.
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公开(公告)号：US20180032671A1
公开(公告)日：2018-02-01
申请号：US15661804
申请日：2017-07-27
申请人： Sequenom, Inc.
发明人： Amin Mazloom , Cosmin Deciu , Chen Zhao , Tong Liu , Yijin Wu
摘要： Technology provided herein relates in part to non-invasive classification of one or more genetic copy number alterations (CNAs) for a test sample. Certain methods include sampling a quantification of sequence reads from parts of a genome, generating a confidence determination, and using the confidence determination to enhance classification. Technology provided herein is useful for classifying a genetic CNA for a sample as part of non-invasive pre-natal (NIPT) testing and oncology testing, for example.
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