-
公开(公告)号:US20230187021A1
公开(公告)日:2023-06-15
申请号:US18045279
申请日:2022-10-10
Applicant: Sequenom, Inc.
Inventor: Youting Sun , Sung Kyun Kim , Mathias Ehrich , Christopher Ellison , Taylor Jensen , Amin Mazloom
Abstract: Technology provided herein relates in part to methods, processes, machines and apparatuses for non-invasive assessment of genomic nucleic acid instability and genomic nucleic acid stability.
-
公开(公告)号:US20230135846A1
公开(公告)日:2023-05-04
申请号:US17751017
申请日:2022-05-23
Applicant: Sequenom, Inc.
Inventor: Taylor Jensen , Christopher Ellison
IPC: C12Q1/6855 , C12N15/10 , C12Q1/6869 , G16B30/00
Abstract: Technology provided herein relates in part to methods, processes, machines and apparatuses for determining sequences of nucleotides for nucleic acid templates in a nucleic acid sample. The technology provide herein also relates in part to methods, processes, machines and apparatuses for counting nucleic acid templates. Nucleic acid templates of a sample are tagged with nonrandom oligonucleotide adapters that include predetermined non-randomly generated sequences. The use of these nonrandom oligonucleotide adapters provides an efficient method to reduce sequencing errors, and increase the sensitivity of detection of low-frequency single nucleotide alterations.
-
公开(公告)号:US11515003B2
公开(公告)日:2022-11-29
申请号:US15661942
申请日:2017-07-27
Applicant: Sequenom, Inc.
Inventor: Youting Sun , Sung Kyun Kim , Mathias Ehrich , Christopher Ellison , Taylor Jensen , Amin Mazloom
Abstract: Technology provided herein relates in part to methods, processes, machines and apparatuses for non-invasive assessment of genomic nucleic acid instability and genomic nucleic acid stability. The method comprises providing a set of genomic portions each coupled to a copy number alteration quantification for a test sample, wherein the genomic portions comprises portions of a reference genome to which sequence reads obtained for nucleic acid from a test sample obtained from the subject have been mapped, and the copy number alteration quantification coupled to each genomic portion has been determined from a quantification of sequence reads mapped to the genomic portion; and determining, by a computing device, presence or absence of genomic instability for the subject according to the copy number alteration quantifications coupled to the genomic portions.
-
公开(公告)号:US11352662B2
公开(公告)日:2022-06-07
申请号:US16479473
申请日:2018-01-22
Applicant: Sequenom, Inc.
Inventor: Taylor Jensen , Christopher Ellison
IPC: C12Q1/6855 , C12N15/10 , C12Q1/6869 , G16B30/00
Abstract: Technology provided herein relates in part to methods, processes, machines and apparatuses for determining sequences of nucleotides for nucleic acid templates in a nucleic acid sample. The technology provide herein also relates in part to methods, processes, machines and apparatuses for counting nucleic acid templates. Nucleic acid templates of a sample are tagged with nonrandom oligonucleotide adapters that include predetermined non-randomly generated sequences. The use of these nonrandom oligonucleotide adapters provides an efficient method to reduce sequencing errors, and increase the sensitivity of detection of low-frequency single nucleotide alterations.
-
公开(公告)号:US11929145B2
公开(公告)日:2024-03-12
申请号:US16477931
申请日:2018-01-22
Applicant: Sequenom, Inc.
Inventor: Mostafa Azab , Michael Sykes , Youting Sun , Amin Mazloom , Taylor Jensen , Mathias Ehrich , Christopher Ellison
Abstract: Technology provided herein relates in part to methods, processes, machines and apparatuses for non-invasive assessment of genetic alterations. In particular, a method is provided for that includes obtaining a set of sequence reads. The sequence reads each include a single molecule barcode (SMB) sequence that is a non-random oligonucleotide sequence. The method further includes assigning the sequence reads to read groups according to a read group signature. The read group signature comprises an SMB sequence and a start and end position of a nucleic acid fragment from the circulating cell free sample nucleic acid. The sequence reads comprising start and end positions and an SMB sequence similar to the read group signature are assigned to a read group. The method further includes generating a consensus for each read group, and determining the presence or absence of a genetic alteration based on the consensus for each read group.
-
公开(公告)号:US20180032666A1
公开(公告)日:2018-02-01
申请号:US15661942
申请日:2017-07-27
Applicant: Sequenom, Inc.
Inventor: Youting Sun , Sung Kyun Kim , Mathias Ehrich , Christopher Ellison , Taylor Jensen , Amin Mazloom
IPC: G06F19/18
Abstract: Technology provided herein relates in part to methods, processes, machines and apparatuses for non-invasive assessment of genomic nucleic acid instability and genomic nucleic acid stability.
-
公开(公告)号:US20240290423A1
公开(公告)日:2024-08-29
申请号:US18429954
申请日:2024-02-01
Applicant: Sequenom, Inc.
Inventor: Mostafa Azab , Michael Sykes , Youting Sun , Amin Mazloom , Taylor Jensen , Mathias Ehrich , Christopher Ellison
Abstract: Technology provided herein relates in part to methods, processes, machines and apparatuses for non-invasive assessment of genetic alterations. In particular, a method is provided for that includes obtaining nucleic acid fragments from a sample from a test subject; sequencing the sequence constructs to obtain sequence reads; demultiplexing the sequence reads to a first and a second subset of sequences reads; generating a first set of consensus reads that correspond to the first nucleic acid fragment based on SMBs associated with the first subset of sequences reads; generating a second set of consensus reads that correspond to the second nucleic acid fragment based on SMBs associated with the second subset of sequences reads; and determining a presence of one or more genetic alterations for the test subject based on the two sets of consensus reads.
-
-
-
-
-
-