公开(公告)号：US12110546B2

公开(公告)日：2024-10-08

申请号：US16805125

申请日：2020-02-28

申请人： Illumina Cambridge Limited

发明人： Nikolai Nikolaevich Romanov ,  Patrick McCauley ,  Niall Hynes

IPC分类号： C12Q1/6869 ,  C07D405/04 ,  C07D413/04 ,  C07D417/04 ,  C07H19/06 ,  C07H19/16

CPC分类号： C12Q1/6869 ,  C07D405/04 ,  C07D413/04 ,  C07D417/04 ,  C07H19/06 ,  C07H19/16 ,  C12Q1/6869 ,  C12Q2535/101 ,  C12Q2563/107

摘要： The present application relates to tertiary amine substituted coumarin derivatives and their uses as fluorescent labels. These compounds may be used as fluorescent labels for nucleotides in nucleic acid sequencing applications.

公开(公告)号：US11802311B2

公开(公告)日：2023-10-31

申请号：US16248729

申请日：2019-01-15

申请人： Massachusetts Institute of Technology

发明人： Bo Cao ,  Peter C. Dedon ,  Jennifer F. Hu ,  Michael S. DeMott

IPC分类号： C12Q1/6874 ,  C12N15/10 ,  C12Q1/6869

CPC分类号： C12Q1/6874 ,  C12N15/1096 ,  C12Q1/6869 ,  C12Q1/6869 ,  C12Q2521/101 ,  C12Q2521/531 ,  C12Q2535/101

摘要： This disclosure provides methods and compositions for analyzing nucleic acids such as DNA and RNA, and including determination of absolute numbers of such nucleic acids and/or detection and localization of lesions or other modifications on such nucleic acids.

公开(公告)号：US20190085014A1

公开(公告)日：2019-03-21

申请号：US16149114

申请日：2018-10-01

申请人： The Trustees of Columbia University in the City of New York

发明人： Jingyue Ju ,  Zengmin Li ,  John Robert Edwards ,  Yasuhiro Itagaki

IPC分类号： C07H19/14 ,  C12Q1/6869 ,  C07H21/00 ,  C12Q1/686 ,  C12Q1/6872 ,  C12Q1/6876 ,  C07H19/10 ,  C12Q1/68 ,  C12Q1/6874 ,  C40B40/00

CPC分类号： C12Q1/6869 ,  C07B2200/11 ,  C07H19/10 ,  C07H19/14 ,  C07H21/00 ,  C12Q1/68 ,  C12Q1/686 ,  C12Q1/6872 ,  C12Q1/6874 ,  C12Q1/6876 ,  C12Q2525/117 ,  C12Q2525/186 ,  C12Q2535/101 ,  C12Q2535/122 ,  C12Q2563/107 ,  C12Q2565/501 ,  C40B40/00

摘要： This invention provides methods for attaching a nucleic acid to a solid surface and for sequencing nucleic acid by detecting the identity of each nucleotide analogue after the nucleotide analogue is incorporated into a growing strand of DNA in a polymerase reaction. The invention also provides nucleotide analogues which comprise unique labels attached to the nucleotide analogue through a cleavable linker, and a cleavable chemical group to cap the —OH group at the 3′-position of the deoxyribose.

公开(公告)号：US20190031705A1

公开(公告)日：2019-01-31

申请号：US16150185

申请日：2018-10-02

申请人： The Trustees of Columbia University in the City of New York

发明人： Jingyue Ju ,  Zengmin Li ,  John Robert Edwards ,  Yasuhiro Itagaki

IPC分类号： C07H19/14 ,  C12Q1/6869 ,  C07H19/10 ,  C12Q1/6874 ,  C12Q1/6876 ,  C12Q1/6872 ,  C12Q1/68 ,  C12Q1/686

CPC分类号： C12Q1/6869 ,  C07B2200/11 ,  C07H19/10 ,  C07H19/14 ,  C07H21/00 ,  C12Q1/68 ,  C12Q1/686 ,  C12Q1/6872 ,  C12Q1/6874 ,  C12Q1/6876 ,  C12Q2525/117 ,  C12Q2525/186 ,  C12Q2535/101 ,  C12Q2535/122 ,  C12Q2563/107 ,  C12Q2565/501 ,  C40B40/00

摘要： This invention provides methods for attaching a nucleic acid to a solid surface and for sequencing nucleic acid by detecting the identity of each nucleotide analogue after the nucleotide analogue is incorporated into a growing strand of DNA in a polymerase reaction. The invention also provides nucleotide analogues which comprise unique labels attached to the nucleotide analogue through a cleavable linker, and a cleavable chemical group to cap the —OH group at the 3′-position of the deoxyribose.

公开(公告)号：US20180276335A1

公开(公告)日：2018-09-27

申请号：US15921812

申请日：2018-03-15

申请人： LIFE TECHNOLOGIES CORPORATION

发明人： Rajesh Gottimukkala ,  Fiona Hyland ,  Sowmi Utiramerur ,  Jeoffrey Schageman ,  Susan Magdaleno

IPC分类号： G06F19/18 ,  C12Q1/6858 ,  C12Q1/6869

CPC分类号： G16B20/00 ,  C12Q1/6858 ,  C12Q1/6869 ,  C12Q2535/101 ,  C12Q2537/143 ,  C12Q2539/105

摘要： Systems and method for identifying long deletions can obtain sequencing information for a plurality of amplicons in and around a potential region from a nucleic acid sample. The sequencing information can include a plurality of reads that can be mapped to a reference sequence. Using information, such as where reads map to a reference sequence and relative abundance of reads for the amplicons, structural variants can be identified and a determination can be made if the nucleic acid sample is homozygous or heterozygous for the structural variant.

公开(公告)号：US09953130B2

公开(公告)日：2018-04-24

申请号：US14503461

申请日：2014-10-01

申请人： LIFE TECHNOLOGIES CORPORATION

发明人： Rajesh Gottimukkala ,  Fiona Hyland ,  Sowmi Utiramerur ,  Jeoffrey Schageman ,  Susan Magdaleno

IPC分类号： C12Q1/68 ,  G06F19/18

CPC分类号： G06F19/18 ,  C12Q1/6858 ,  C12Q1/6869 ,  C12Q2535/101 ,  C12Q2537/143 ,  C12Q2539/105

摘要： Systems and method for identifying long deletions can obtain sequencing information for a plurality of amplicons in and around a potential region from a nucleic acid sample. The sequencing information can include a plurality of reads that can be mapped to a reference sequence. Using information, such as where reads map to a reference sequence and relative abundance of reads for the amplicons, structural variants can be identified and a determination can be made if the nucleic acid sample is homozygous or heterozygous for the structural variant.

公开(公告)号：US20180010180A1

公开(公告)日：2018-01-11

申请号：US15631414

申请日：2017-06-23

申请人： Centrillion Technology Holdings Corporation

发明人： Wei ZHOU ,  Rui MEI ,  Hajime MATSUZAKI

IPC分类号： C12Q1/68

CPC分类号： C12Q1/6869 ,  C12Q1/6874 ,  C12Q2525/185 ,  C12Q2527/113 ,  C12Q2535/122 ,  C12Q2521/501 ,  C12Q2525/186 ,  C12Q2535/101

摘要： The present invention provides methods and systems for sequencing long nucleic acid fragment. The present invention also provides a method of sequencing a target polynucleotide with fewer probes. Further, the present invention provides a method of sequencing a target polynucleotide with longer reads. Locus-specific, ligation-assisted sequencing/genotyping method and ligation-captured sequencing method are also provided in the present invention. The methods of the present invention allow low-cost, high-throughput and accurate sequencing of nucleic acids.

公开(公告)号：US09725480B2

公开(公告)日：2017-08-08

申请号：US15167917

申请日：2016-05-27

申请人： The Trustees of Columbia University in the City of New York

发明人： Jingyue Ju ,  Zengmin Li ,  John Robert Edwards ,  Yasuhiro Itagaki

IPC分类号： C07H19/14 ,  C12Q1/68 ,  C07H21/00 ,  C40B40/00

CPC分类号： C07H19/14 ,  C07B2200/11 ,  C07H19/10 ,  C07H21/00 ,  C12Q1/68 ,  C12Q1/686 ,  C12Q1/6869 ,  C12Q1/6872 ,  C12Q1/6874 ,  C12Q1/6876 ,  C12Q2525/117 ,  C12Q2535/101 ,  C12Q2535/122 ,  C12Q2563/107 ,  C40B40/00 ,  C12Q2565/501 ,  C12Q2525/186

摘要： This invention provides methods for attaching a nucleic acid to a solid surface and for sequencing nucleic acid by detecting the identity of each nucleotide analog after the nucleotide analog is incorporated into a growing strand of DNA in a polymerase reaction. The invention also provides nucleotide analogs which comprise unique labels attached to the nucleotide analog through a cleavable linker, and a cleavable chemical group to cap the —OH group at the 3′-position of the deoxyribose.

公开(公告)号：US20170029884A1

公开(公告)日：2017-02-02

申请号：US15214737

申请日：2016-07-20

申请人： INTELLIGENT BIO-SYSTEMS, INC.

发明人： Steven Gordon ,  Jerzy Olejnik

IPC分类号： C12Q1/68 ,  G01N21/64 ,  G01N21/05

CPC分类号： C07H19/00 ,  C12Q1/6869 ,  C12Q1/6874 ,  C12Q2535/101 ,  G01N21/05 ,  G01N21/6428 ,  G01N21/645 ,  G01N2021/0346 ,  G01N2021/058 ,  G01N2021/6417 ,  G01N2021/6419 ,  G01N2021/6421 ,  G01N2021/6439 ,  G01N2021/6441 ,  G01N2021/6471 ,  G01N2201/062 ,  G01N2201/0627 ,  G01N2201/12

摘要： The invention provides methods and compositions, including, without limitation, algorithms, computer readable media, computer programs, apparatus, and systems for determining the identity of nucleic acids in nucleotide sequences using, for example, data obtained from sequencing by synthesis methods. The methods of the invention include correcting one or more phenomena that are encountered during nucleotide sequencing, such as using sequencing by synthesis methods. These phenomena include, without limitation, sequence lead, sequence lag, spectral crosstalk, and noise resulting from variations in illumination and/or filter responses.

摘要翻译： 本发明提供了方法和组合物，包括但不限于使用例如通过合成方法的测序获得的数据来确定核苷酸序列中核酸的身份的算法，计算机可读介质，计算机程序，装置和系统。 本发明的方法包括校正核苷酸测序期间遇到的一种或多种现象，例如通过合成方法进行测序。 这些现象包括但不限于序列引导，序列滞后，光谱串扰以及由照明和/或滤波器响应变化引起的噪声。

公开(公告)号：US09434989B2

公开(公告)日：2016-09-06

申请号：US14691042

申请日：2015-04-20

申请人： Intelligent BioSystems Inc.

发明人： Steven Gordon ,  Jerzy Olejnik

IPC分类号： C12Q1/68 ,  C12P19/34 ,  G01N21/64 ,  C07H21/04 ,  C07H19/04 ,  G01N21/05 ,  G01N21/03

CPC分类号： C07H19/00 ,  C12Q1/6869 ,  C12Q1/6874 ,  C12Q2535/101 ,  G01N21/05 ,  G01N21/6428 ,  G01N21/645 ,  G01N2021/0346 ,  G01N2021/058 ,  G01N2021/6417 ,  G01N2021/6419 ,  G01N2021/6421 ,  G01N2021/6439 ,  G01N2021/6441 ,  G01N2021/6471 ,  G01N2201/062 ,  G01N2201/0627 ,  G01N2201/12

摘要： The invention provides methods and compositions, including, without limitation, algorithms, computer readable media, computer programs, apparatus, and systems for determining the identity of nucleic acids in nucleotide sequences using, for example, data obtained from sequencing by synthesis methods. The methods of the invention include correcting one or more phenomena that are encountered during nucleotide sequencing, such as using sequencing by synthesis methods. These phenomena include, without limitation, sequence lead, sequence lag, spectral crosstalk, and noise resulting from variations in illumination and/or filter responses.