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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
Applicant: Sequenom, Inc.
Inventor： Amin Mazloom , Cosmin Deciu , Chen Zhao , Tong Liu , Yijin Wu
Abstract: 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：US11200963B2
公开(公告)日：2021-12-14
申请号：US15661804
申请日：2017-07-27
Applicant: Sequenom, Inc.
Inventor： Amin Mazloom , Cosmin Deciu , Chen Zhao , Tong Liu , Yijin Wu
Abstract: 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：US20210358565A1
公开(公告)日：2021-11-18
申请号：US16479864
申请日：2018-01-24
Applicant: Sequenom, Inc.
Inventor： John A. Tynan , Amin Mazloom , Yijin Wu , Mark Whidden , Mathias Ehrich
IPC: G16B20/10
Abstract: Technology provided herein relates in part to non-invasive classification of one or more genetic copy number variations (CNVs) for a test sample. Technology provided herein is useful for classifying a genetic CNV for a sample as part of non-invasive pre-natal (NIPT) testing and oncology testing, for example.
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Patent Agency Ranking
公开(公告)号：US20240233866A1
公开(公告)日：2024-07-11
申请号：US18429893
申请日：2024-02-01
Applicant: SEQUENOM, INC.
Inventor： Yijin Wu , Amin Mazloom , Yang Zhong , Mostafa Azab
Abstract: The present invention relates to systems and methods for non-invasive assessment of genetic variation. In particular, aspects are directed to a computer-implemented method that includes ligating nucleic acid molecules with adapters to generate sequence constructs, sequencing the sequence constructs to obtain sequence reads, generating an alignment computer file including on-target sequence reads and associated genomic positioning data, generating a probe coverage data file for the sample using the on-target sequence reads and the associated genomic positioning data, generating segments and associated probe coverage quantification data for each segment using a segmentation model and the probe coverage data file, identifying genes overlapping with the segments, generating filtered segments based on the identified genes, and determining a presence or absence of a genetic variation in the sample based on the filtered segments.
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公开(公告)号：US11694768B2
公开(公告)日：2023-07-04
申请号：US16479864
申请日：2018-01-24
Applicant: Sequenom, Inc.
Inventor： John A. Tynan , Amin Mazloom , Yijin Wu , Mark Whidden , Mathias Ehrich
IPC: G16B20/10
CPC classification number: G16B20/10
Abstract: Technology provided herein relates in part to non-invasive classification of one or more genetic copy number variations (CNVs) for a test sample. Technology provided herein is useful for classifying a genetic CNV 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：US11929143B2
公开(公告)日：2024-03-12
申请号：US16477923
申请日：2018-01-22
Applicant: Sequenom, Inc.
Inventor： Yijin Wu , Amin Mazloom , Yang Zhong , Mostafa Azab
Abstract: Technology provided herein relates in part to methods, processes, machines and apparatuses for non-invasive assessment of copy number alterations. In particular, a method is provided for determining presence or absence of a copy number alteration for a test subject. The method includes providing a set of sequence reads. The sequence reads may be obtained from circulating cell free sample nucleic acid from a test sample obtained from the test subject, and the circulating cell free sample nucleic acid may be captured by probe oligonucleotides under hybridization conditions. The method further includes determining a probe coverage quantification of the sequence reads for the probe oligonucleotides and determining the presence or absence of a copy number alteration in the circulating cell free sample nucleic acid based on the probe coverage quantification of the sequence reads for the probe oligonucleotides for the test sample.
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公开(公告)号：US20240029826A1
公开(公告)日：2024-01-25
申请号：US18317573
申请日：2023-05-15
Applicant: Sequenom, Inc.
Inventor： John A. Tynan , Amin Mazloom , Yijin Wu , Mark Whidden , Mathias Ehrich
IPC: G16B20/10
CPC classification number: G16B20/10
Abstract: Technology provided herein relates in part to non-invasive classification of one or more genetic copy number variations (CNVs) for a test sample. Technology provided herein is useful for classifying a genetic CNV 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：US20180032671A1
公开(公告)日：2018-02-01
申请号：US15661804
申请日：2017-07-27
Applicant: Sequenom, Inc.
Inventor： Amin Mazloom , Cosmin Deciu , Chen Zhao , Tong Liu , Yijin Wu
Abstract: 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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