IP Library Granted Patent US 12,590,302
Granted Patent B2
US 12,590,302 · App. 18/672,510 · Granted Mar 31, 2026

Multiplexed sequencing in cells and tissues

Inventors: Eli N. Glezer (Del Mar, CA); Niek Van Wietmarschen (San Diego, CA); Daan Witters (San Diego, CA)
Assignee: Singular Genomics Systems, Inc.
C12N15/1068C12Q1/6806C12Q1/6837C12Q1/6844C12Q1/6874
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Quick Facts
Patent No.
US 12,590,302
App. No.
18/672,510
Filed
May 23, 2024
Granted
Mar 31, 2026
Kind
B2
Art Unit
1684
USPC
506/2
Abstract

Disclosed herein, inter alia, are methods and compositions for detecting a plurality of nucleic acids in a sample including a cell or tissue. The methods may include amplifying nucleic acid molecules in the sample and detecting the amplified nucleic acid molecules in the sample.

Claims (49)

1 . A method of detecting different nucleic acid molecules in a sample comprising a cell or tissue, said method comprising:

amplifying a plurality of different nucleic acid molecules in said cell or tissue to generate a first, a second, a third, and a fourth amplification product in said cell or tissue;

binding a first primer to a first amplification product in said cell or tissue and incorporating 5 to 200 labeled nucleotides into the first primer and detecting the labeled nucleotides incorporated into the first primer; followed by

binding a second primer to a second amplification product in said cell or tissue and incorporating 5 to 200 labeled nucleotides into the second primer and detecting the labeled nucleotides incorporated into the second primer; followed by

binding a third primer to a third amplification product in said cell or tissue and incorporating 5 to 200 labeled nucleotides into the third primer and detecting the labeled nucleotides incorporated into the third primer; followed by

binding a fourth primer to a fourth amplification product in said cell or tissue and incorporating 5 to 200 labeled nucleotides into the fourth primer and detecting the labeled nucleotides incorporated into the fourth primer;

wherein the first, second, third, and fourth primers each comprise a different sequence.

2 . The method of claim 1 , wherein the different nucleic acid molecules are in a cell of said sample.

3 . The method of claim 1 , wherein the sample comprises liver tissue, kidney tissue, bone tissue, lung tissue, thymus tissue, adrenal tissue, skin tissue, bladder tissue, colon tissue, spleen tissue, or brain tissue.

4 . The method of claim 1 , wherein each amplification product comprises a gene sequence, or a complement thereof.

5 . The method of claim 1 , wherein amplifying comprises rolling circle amplification (RCA) or exponential rolling circle amplification (eRCA).

6 . The method of claim 1 , prior to binding the second primer, the method comprises contacting the first primer with a sequencing solution comprising one or more modified nucleotides comprising a reversible terminator, and monitoring the sequential incorporation of complementary nucleotides to generate a sequencing read, wherein the reversible terminator is removed prior to the introduction of the next complementary nucleotide.

7 . The method of claim 1 , wherein the method further comprises incorporating an irreversibly terminated nucleotide into the first primer prior to hybridizing the second primer.

8 . The method of claim 1 , wherein the first, second, third, and fourth primer are each a different sequence selected from SEQ ID NO:1 to SEQ ID NO:96.

9 . The method of claim 1 , wherein the plurality of different nucleic acid molecules comprises a first circular polynucleotide, a second circular polynucleotide, a third circular polynucleotide, and a fourth circular polynucleotide.

10 . The method of claim 9 , wherein each circular polynucleotide is synthetic and bound to an RNA molecule or DNA molecule in said sample.

11 . The method of claim 9 , wherein each circular polynucleotide is bound to an oligonucleotide attached to a protein-specific binding moiety.

12 . The method of claim 1 , wherein the plurality of nucleic acid molecules each comprise a barcode.

13 . The method of claim 1 , prior to amplifying, the method comprises:

binding a first polynucleotide probe comprising a 3′ and 5′ end to a first target polynucleotide and ligating the 5′ and 3′ ends together to form a first nucleic acid molecule; and

binding a second polynucleotide probe comprising a 3′ and 5′ end to a second target polynucleotide and ligating the 5′ and 3′ ends together to form a second nucleic acid molecule; thereby forming different nucleic acid molecules.

14 . The method of claim 1 , wherein the first primer, second primer, third primer, and fourth primer are each bound to the amplification product simultaneously.

15 . The method of claim 1 , wherein the first primer, second primer, third primer, and fourth primer are each bound to the amplification product sequentially.

16 . The method of claim 1 , wherein the labeled nucleotides each comprise a fluorescent label and a reversible terminator.

17 . A method of detecting different nucleic acid molecules in a tissue sample, said method comprising:

amplifying a plurality of different circular polynucleotides in said tissue sample to generate a plurality of amplification products;

binding a first primer to a first amplification product and incorporating a first labeled nucleotide into the first primer and incorporating an irreversibly terminated nucleotide into the first primer;

binding a second primer to a second amplification product and incorporating a second labeled nucleotide into the second primer and incorporating an irreversibly terminated nucleotide into the second primer; and

detecting the first and second incorporated nucleotides.

18 . The method of claim 17 , prior to detecting, the method comprises:

binding a third primer to a third amplification product and incorporating a third labeled nucleotide into the third primer and incorporating an irreversibly terminated nucleotide into the third primer; and

binding a fourth primer to a fourth amplification product and incorporating a fourth labeled nucleotide into the fourth primer and incorporating an irreversibly terminated nucleotide into the fourth primer.

19 . The method of claim 18 , further comprising detecting the third and fourth labeled nucleotides.

20 . The method of claim 1 , wherein the sample comprises cancer cells.

21 . The method of claim 16 , wherein the reversible terminator comprises a C 2 -C 6 allyl moiety, a disulfide moiety, or an azido moiety.

22 . A method of detecting different nucleic acid molecules in a sample comprising a cell or tissue, said method comprising:

amplifying a plurality of different nucleic acid molecules in said sample to generate a plurality of amplification products in said sample;

binding a first primer to a first amplification product and incorporating a first labeled nucleotide into the first primer and detecting the labeled nucleotide;

binding a second primer to a second amplification product and incorporating a second labeled nucleotide into the second primer and detecting the second labeled nucleotide;

binding a third primer to a third amplification product and incorporating a third labeled nucleotide into the third primer and detecting the third labeled nucleotide; and

binding a fourth primer to a fourth amplification product and incorporating a fourth labeled nucleotide into the fourth primer and detecting the fourth labeled nucleotide;

wherein the first, second, third, and fourth primer are each a different sequence selected from SEQ ID NO:1 to SEQ ID NO:96.

23 . A method of selectively sequencing nucleic acids in a cell or tissue, the method comprising:

generating a plurality of amplification products in the cell or tissue, wherein a first subset of the amplification products comprises a first primer binding sequence, a second subset of the amplification products comprises a second primer binding sequence, a third subset of the amplification products comprises a third primer binding sequence, and a fourth subset of the amplification products comprises a fourth primer binding sequence;

hybridizing a sequencing primer complementary to the first sequencing primer binding sequence of the first subset and sequencing a first sequence of the amplification products; followed by

hybridizing a sequencing primer complementary to the second sequencing primer binding sequence of the second subset and sequencing a second sequence of the amplification products; followed by

hybridizing a sequencing primer complementary to the third sequencing primer binding sequence of the third subset and sequencing a third sequence of the amplification products; followed by

hybridizing a sequencing primer complementary to the fourth sequencing primer binding sequence of the fourth subset and sequencing a fourth sequence of the amplification products; and

removing each sequencing primer prior to hybridizing a subsequent sequencing primer.

Assignments (2)
SECURITY INTEREST Recorded Mar 7, 2025
From: SINGULAR GENOMICS SYSTEMS, INC.
To: FIRST-CITIZENS BANK & TRUST COMPANY
Reel/Frame 070440/0465 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Dec 6, 2024
From: GLEZER, ELI N.; WITTERS, DAAN; VAN WIETMARSCHEN, NIEK
To: SINGULAR GENOMICS SYSTEMS, INC.
Reel/Frame 069510/0401 →
Continuity (6)
Continuation 18154639 · Jan 13, 2023
Continuation 17731173 · Apr 27, 2022
Provisional Application 63315339 · Mar 1, 2022
Provisional Application 63255300 · Oct 13, 2021
Provisional Application 63180588 · Apr 27, 2021
Related Publication 20240309359A1 · Sep 19, 2024
References Cited (123)
US 4318846A · Khanna et al. · 1982 [cited by applicant]
US 4882245A · Gelorme et al. · 1989 [cited by applicant]
US 4970276A · Das et al. · 1990 [cited by applicant]
US 5034506A · Summerton et al. · 1991 [cited by applicant]
US 5066580A · Lee · 1991 [cited by applicant]
US 5188934A · Menchen et al. · 1993 [cited by applicant]
US 5235033A · Summerton et al. · 1993 [cited by applicant]
US 5270163A · Gold et al. · 1993 [cited by applicant]
US 5366860A · Bergot et al. · 1994 [cited by applicant]
US 5475096A · Gold et al. · 1995 [cited by applicant]
US 5599675A · Brenner · 1997 [cited by applicant]
US 5641658A · Adams et al. · 1997 [cited by applicant]
US 5688648A · Mathies et al. · 1997 [cited by applicant]
US 5750341A · Macevicz · 1998 [cited by applicant]
US 5763594A · Hiatt et al. · 1998 [cited by applicant]
US 5800996A · Lee et al. · 1998 [cited by applicant]
US 5808045A · Hiatt et al. · 1998 [cited by applicant]
US 5847162A · Lee et al. · 1998 [cited by applicant]
US 5872244A · Hiatt et al. · 1999 [cited by applicant]
US 6210891B1 · Nyren et al. · 2001 [cited by applicant]
US 6232465B1 · Hiatt et al. · 2001 [cited by applicant]
US 6258568B1 · Nyren · 2001 [cited by applicant]
US 6274320B1 · Rothberg et al. · 2001 [cited by applicant]
US 6664079B2 · Ju et al. · 2003 [cited by applicant]
US 6897012B2 · Hada et al. · 2005 [cited by applicant]
US 6991888B2 · Padmanaban et al. · 2006 [cited by applicant]
US 7057026B2 · Barnes et al. · 2006 [cited by applicant]
US 7467632B2 · Lee et al. · 2008 [cited by applicant]
US 7541444B2 · Milton et al. · 2009 [cited by applicant]
US 7855054B2 · Schneider et al. · 2010 [cited by applicant]
US 7947447B2 · Zichi et al. · 2011 [cited by applicant]
US 7964356B2 · Zichi et al. · 2011 [cited by applicant]
US 7985565B2 · Mayer et al. · 2011 [cited by applicant]
US 8178360B2 · Barnes et al. · 2012 [cited by applicant]
US 10738072B1 · Graham et al. · 2020 [cited by applicant]
US 11434525B2 · Glezer · 2022 [cited by applicant]
US 11486004B2 · Witters et al. · 2022 [cited by applicant]
US 11492662B2 · Glezer et al. · 2022 [cited by applicant]
US 11578320B2 · Glezer et al. · 2023 [cited by applicant]
US 11643679B2 · Glezer et al. · 2023 [cited by applicant]
US 11649452B2 · Glezer et al. · 2023 [cited by applicant]
US 11680288B2 · Glezer · 2023 [cited by applicant]
US 11686681B2 · Trintchouk et al. · 2023 [cited by applicant]
US 11753678B2 · Glezer · 2023 [cited by applicant]
US 11891656B2 · Glezer · 2024 [cited by applicant]
US 11958877B2 · Graham et al. · 2024 [cited by applicant]
US 12006534B2 · Glezer · 2024 [cited by applicant]
US 12110550B2 · Witters et al. · 2024 [cited by applicant]
US 12123054B2 · Glezer et al. · 2024 [cited by applicant]
US 20080000373A1 · Petrucci-Samija et al. · 2008 [cited by applicant]
US 20100160478A1 · Nilsson et al. · 2010 [cited by applicant]
US 20110136099A1 · Schneider et al. · 2011 [cited by applicant]
US 20110319290A1 · Raymond et al. · 2011 [cited by applicant]
US 20120115752A1 · Zichi et al. · 2012 [cited by applicant]
US 20120157322A1 · Myllykangas et al. · 2012 [cited by applicant]
US 20130012399A1 · Myers et al. · 2013 [cited by applicant]
US 20150079351A1 · Atasoy et al. · 2015 [cited by applicant]
US 20160251711A1 · Amorese et al. · 2016 [cited by applicant]
US 20170022553A1 · Vijayan et al. · 2017 [cited by applicant]
US 20180258472A1 · Glezer · 2018 [cited by applicant]
US 20180274024A1 · Ju et al. · 2018 [cited by applicant]
US 20180312917A1 · Trepagnier · 2018 [cited by examiner]
US 20190048404A1 · Dambacher · 2019 [cited by applicant]
US 20200208214A1 · Fisher et al. · 2020 [cited by applicant]
US 20200239875A1 · Sabot et al. · 2020 [cited by applicant]
US 20210139884A1 · Kellinger et al. · 2021 [cited by applicant]
US 20210190668A1 · Kovacs et al. · 2021 [cited by applicant]
US 20210239692A1 · Sanders et al. · 2021 [cited by applicant]
US 20220235410A1 · Witters et al. · 2022 [cited by applicant]
US 20220259648A1 · Witters et al. · 2022 [cited by applicant]
US 20220356466A1 · Glezer et al. · 2022 [cited by applicant]
US 20230095409A1 · Witters et al. · 2023 [cited by applicant]
US 20230111099A1 · Glezer et al. · 2023 [cited by applicant]
US 20230242904A1 · Glezer et al. · 2023 [cited by applicant]
WO WO1989010977A1 · 1989 [cited by applicant]
WO WO1996007669A1 · 1996 [cited by applicant]
WO WO2004018497A2 · 2004 [cited by applicant]
WO WO2005061722A1 · 2005 [cited by examiner]
WO WO2013177206A2 · 2013 [cited by examiner]
WO 2014144092A1 · 2014 [cited by applicant]
WO WO2017168332A1 · 2017 [cited by examiner]
WO WO2017205336A1 · 2017 [cited by applicant]
WO WO2018148723A1 · 2018 [cited by applicant]
WO WO2020056044A1 · 2020 [cited by applicant]
WO WO2020163630A1 · 2020 [cited by applicant]
WO WO2022174054A1 · 2022 [cited by examiner]
WO WO2022232308A1 · 2022 [cited by applicant]
Mohsen et al. The discovery of rolling circle amplification and rolling circle transcription. Accounts of Chemical Research. 49, 2016, 2540-2550 (Year: 2016). [cited by examiner]
Bains, W. et al. (Dec. 7, 1988). “A novel method for nucleic acid sequence determination,” [cited by applicant]
Beattie, W. G. et al. (Dec. 1995). “Hybridization of DNA targets to glass-tethered oligonucleotide probes,” [cited by applicant]
Bentley, D. R. et al. (Nov. 6, 2008). “Accurate whole human genome sequencing using reversible terminator chemistry,” [cited by applicant]
Bergen, K. et al. (Jun. 17, 2013, e-published Jun. 3, 2013). “Structures of KOD and 9ºN DNA polymerases complexed with primer template duplex,” [cited by applicant]
Bianchi, D. W. et al. (May 2012). “Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing,” [cited by applicant]
Cayer, D. M. et al. (Oct. 1, 2016, e-published Jul. 20, 2016). “Mission critical: the need for proteomics in the era of next-generation sequencing and precision medicine,” [cited by applicant]
Drmanac, S. et al. (Jan. 1, 1998). “Accurate sequencing by hybridization for DNA diagnostics and individual genomics,” [cited by applicant]
Eminaga, S. et al. (Jul. 15, 2013). “Quantification of microRNA expression with next-generation sequencing,” [cited by applicant]
Feeney, R. et al. (Apr. 1, 1982). “Modification of Proteins,” [cited by applicant]
Fodor, S. P. A et al. (Feb. 15, 1991). “Light-directed, spatially addressable parallel chemical synthesis,” [cited by applicant]
Fuller, C. W. et al. (Mar. 18, 2016, e-published Apr. 18, 2016). “Real-time single-molecule electronic DNA sequencing by synthesis using polymer-tagged nucleotides on a nanopore array,” [cited by applicant]
GenBank Accession No. DN169254 “LH__Ea04M05.f LH__Ea Solanum habrochaites cDNA clone LH__Ea04M05 5′, mRNA sequence” <https://www.ncbi.nlm.nih.gov/nuccore/DN169254>, last accessed Oct. 4, 2022. [cited by applicant]
Guo, J. et al. (Jul. 8, 2008, e-published Jun. 30, 2008). “Four-color DNA sequencing with 3′-O-modified nucleotide reversible terminators and chemically cleavable fluorescent dideoxynucleotides,” [cited by applicant]
Haas, K-H. et al. (Aug. 30, 1999, e-published Sep. 2, 1999). “Functionalized coating materials based on inorganic-organic polymers,” [cited by applicant]
Illumina, Accurate Demultiplexing (Sep. 21, 2020). <https://web.archive.org/web/20200921074734/https://www.illumina.com/techniques/sequencing/ngs-library-prep/multiplexing/unique-dual-indexes.html>, last accessed Oct. 5… [cited by applicant]
International Search Report and Written Opinion mailed on Sep. 14, 2022, for PCT application PCT/US2022/026587, filed Apr. 27, 2022, 23 pages. [cited by applicant]
Kannan, K. et al. (May 31, 2011, e-published May 12, 2011). “Recurrent chimeric RNAs enriched in human prostate cancer identified by deep sequencing,” [cited by applicant]
Kucharik, . et al. (Aug. 26, 2020). “Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions,” [cited by applicant]
Kukurba, K. R. et al. (Apr. 13, 2015). “RNA sequencing and analysis,” [cited by applicant]
Kumar, S. et al. (Sep. 21, 2012). “PEG-labeled nucleotides and nanopore detection for single molecule DNA sequencing by synthesis,” [cited by applicant]
Maarten Altelaar, A. F. et al. (Jan. 2013, e-published Dec. 4, 2012). “Next-generation proteomics: towards an integrative view of proteome dynamics,” [cited by applicant]
Maher, C. A. et al. (Mar. 5, 2009, e-published Jan. 11, 2009). “Transcriptome sequencing to detect gene fusions in cancer,” [cited by applicant]
Mag, M. et al. (Nov. 24, 1992, e-published Mar. 5, 2001). “Synthesis and selective cleavage of an oligodeoxynucleotide containing a bridged non-chiral internucleotide 3′-phosphoramidate linkage,” [cited by applicant]
Norton, M. E. et al. (Apr. 23, 2015). “Cell-free DNA analysis for noninvasive examination of trisomy,” [cited by applicant]
Raman, L. et al. (Feb. 28, 2019, e-published Dec. 19, 2018). “WisecondorX: improved copy number detection for routine shallow whole-genome sequencing,” [cited by applicant]
Ronaghi, M. et al. (Nov. 1, 1996, e-published May 25, 2002). “Real-time DNA sequencing using detection of pyrophosphate release,” [cited by applicant]
Ronaghi, M. et al. (Jul. 17, 1998). “A sequencing method based on real-time pyrophosphate,” Science 281(5375): 363-365. [cited by applicant]
Ronaghi, M. (Jan. 2001). “Pyrosequencing sheds light on DNA sequencing,” [cited by applicant]
Shendure, J. et al. (Sep. 9, 2005) “Accurate multiplex polony sequencing of an evolved bacterial genome,” [cited by applicant]
Southworth, M. W. et al. (May 28, 1996). “Cloning of thermostable DNA polymerases from hyperthermophilic marine Archaea with emphasis on [cited by applicant]
Tsao, D. S. et al. (Sep. 11, 2019, e-published Oct. 7, 2019). “A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT,” [cited by applicant]
Van Schendel, R. V. et al. (Sep. 19, 2017). “Implementing non-invasive prenatal testing for aneuploidy in a national healthcare system: global challenges and national solutions,” [cited by applicant]
Walker, J. W. et al. (Oct. 1, 1988, e-published May 1, 2002). “Photolabile 1-(2-nitrophenyl) ethyl phosphate esters of adenine nucleotide analogs. Synthesis and mechanism of photolysis,” [cited by applicant]
Wang, Z. et al. (Jan. 2009). “RNA-Seq: a revolutionary tool for transcriptomics,” [cited by applicant]
Zhao, Q-Y. et al. (Dec. 14, 2011). “Optimizing de novo transcriptome assembly from short-read RNA-Seq data: a comparative study,” [cited by applicant]