公开(公告)号：US20230187021A1

公开(公告)日：2023-06-15

申请号：US18045279

申请日：2022-10-10

申请人： Sequenom, Inc.

发明人： Youting Sun ,  Sung Kyun Kim ,  Mathias Ehrich ,  Christopher Ellison ,  Taylor Jensen ,  Amin Mazloom

IPC分类号： G16B20/10 ,  G16B20/00 ,  G16B20/20

CPC分类号： G16B20/10 ,  G16B20/00 ,  G16B20/20 ,  G16B10/00

摘要： 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：US11515003B2

公开(公告)日：2022-11-29

申请号：US15661942

申请日：2017-07-27

申请人： Sequenom, Inc.

发明人： Youting Sun ,  Sung Kyun Kim ,  Mathias Ehrich ,  Christopher Ellison ,  Taylor Jensen ,  Amin Mazloom

IPC分类号： G16B20/10 ,  G16B20/00 ,  G16B20/20 ,  G16B10/00

摘要： 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：US20240290423A1

公开(公告)日：2024-08-29

申请号：US18429954

申请日：2024-02-01

申请人： Sequenom, Inc.

发明人： Mostafa Azab ,  Michael Sykes ,  Youting Sun ,  Amin Mazloom ,  Taylor Jensen ,  Mathias Ehrich ,  Christopher Ellison

IPC分类号： G16B20/20 ,  C12Q1/6816 ,  G16B20/10 ,  G16B20/40 ,  G16B25/00 ,  G16B30/10

CPC分类号： G16B20/20 ,  C12Q1/6816 ,  G16B20/10 ,  G16B25/00 ,  G16B30/10 ,  G16B20/40

摘要： 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.

公开(公告)号：US20170342477A1

公开(公告)日：2017-11-30

申请号：US15607235

申请日：2017-05-26

申请人： Sequenom, Inc.

发明人： Taylor Jacob Jensen ,  Mathias Ehrich ,  Dirk van den Boom ,  John Allen Tynan ,  Sung Kyun Kim ,  Timothy S. Burcham ,  Christopher K. Ellison ,  Youting Sun

IPC分类号： C12Q1/68 ,  C40B30/02 ,  G06F19/22 ,  G06F19/20

CPC分类号： C12Q1/6858 ,  C12Q1/6844 ,  C12Q1/6853 ,  C12Q1/6883 ,  C12Q1/6886 ,  C12Q2600/156 ,  C12Q2600/16 ,  G16B25/00 ,  G16B30/00 ,  G16B35/00 ,  G16C20/60 ,  G16H15/00 ,  G16H50/30 ,  C12Q2537/143 ,  C12Q2537/16 ,  C12Q2537/165 ,  C12Q2545/114

摘要： Technology provided herein relates in part to methods, processes, machines and apparatuses for detecting genetic variations. In some embodiments, the technology is related to non-invasive assessment of aneuploidies.

公开(公告)号：US11929145B2

公开(公告)日：2024-03-12

申请号：US16477931

申请日：2018-01-22

申请人： Sequenom, Inc.

发明人： Mostafa Azab ,  Michael Sykes ,  Youting Sun ,  Amin Mazloom ,  Taylor Jensen ,  Mathias Ehrich ,  Christopher Ellison

IPC分类号： G16B20/20 ,  C12Q1/6816 ,  G16B20/10 ,  G16B20/40 ,  G16B25/00 ,  G16B30/10

CPC分类号： G16B20/20 ,  C12Q1/6816 ,  G16B20/10 ,  G16B25/00 ,  G16B30/10 ,  G16B20/40

摘要： 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

申请人： Sequenom, Inc.

发明人： Youting Sun ,  Sung Kyun Kim ,  Mathias Ehrich ,  Christopher Ellison ,  Taylor Jensen ,  Amin Mazloom

IPC分类号： G06F19/18

CPC分类号： G16B20/00 ,  G16B10/00

摘要： 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.