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公开(公告)号:US20240249797A1
公开(公告)日:2024-07-25
申请号:US18424587
申请日:2024-01-26
Applicant: Ultima Genomics, Inc.
Inventor: Yoav ETZIONI , Edward PERELMAN , Asaf HALLE
IPC: G16B30/00 , C12Q1/6874 , G16B40/20
CPC classification number: G16B30/00 , C12Q1/6874 , G16B40/20
Abstract: Methods for updating a system comprising a sequencer are described herein. In some exemplary methods, the system is updated through generating sequencing data for a plurality of nucleic acid molecule colonies, selecting sequencing data for a subset of the nucleic acid molecule colonies, calling preliminary sequences for the subset of the nucleic acid colonies, mapping the called preliminary sequences to a known reference sequence, and updating the pre-trained sequencer-specific machine-learning model. Also described herein are systems for carrying out such methods and computer readable memory for storing such methods.
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公开(公告)号:US20240043918A1
公开(公告)日:2024-02-08
申请号:US18035081
申请日:2021-11-03
Applicant: Ultima Genomics, Inc.
Inventor: Omer BARAD , Yoav ETZIONI
IPC: C12Q1/6869 , C12Q1/6809
CPC classification number: C12Q1/6869 , C12Q1/6809
Abstract: Described herein are methods of sequencing a polynucleotide and methods of analyzing sequencing data obtained from such sequencing methods. The sequencing methods can include accelerated primer extension through a region of the polynucleotide using labeled nucleotides provided according to a flow order, measuring a signal from labeled nucleotides incorporated into the primer, and determining distance information that indicates the length of the region using the measured signal.
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公开(公告)号:US20240153583A1
公开(公告)日:2024-05-09
申请号:US18417825
申请日:2024-01-19
Applicant: Ultima Genomics, Inc.
Inventor: Yoav ETZIONI , Edward PERELMAN
Abstract: Described herein are methods and systems for improving nucleic acid sequencing read quality. An exemplary method comprises receiving, at one or more processors, sequencing data comprising a plurality of sequencing reads; filtering the sequencing data, using the one or more processors, to remove sequencing reads for which an absence of an incorporated nucleotide was detected at three or more consecutive sequencing flow steps, thereby generating filtered sequencing data; determining, using the one or more processors, for each sequencing flow step of each sequencing read, a read quality metric based on one or more homopolymer probability values other than a highest homopolymer probability value; and trimming the terminus of one or more sequencing reads in the sequencing data based on the read quality metrics for a respective sequencing read, thereby generating trimmed sequencing data.
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公开(公告)号:US20230343416A1
公开(公告)日:2023-10-26
申请号:US18025603
申请日:2021-09-10
Applicant: Ultima Genomics, Inc.
Inventor: Yoav ETZIONI , Omer BARAD , Avishai BARTOV , Ilya SOIFER , Ehud AMITAI , Asaf HALLE
IPC: G16B40/10 , C12Q1/6869 , G16B40/20 , G16B30/10 , G06N3/0464
CPC classification number: G16B40/10 , C12Q1/6869 , G16B40/20 , G16B30/10 , G06N3/0464
Abstract: The present disclosure provides methods, systems, and media for accurate and efficient estimation of a genome of a genus. The methods and systems described herein may be used to accurately determine a base sequence of a polynucleotide. Additionally, the methods and systems may be used to identify base variants of a polynucleotide.
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公开(公告)号:US20240120025A1
公开(公告)日:2024-04-11
申请号:US18362754
申请日:2023-07-31
Applicant: Ultima Genomics, Inc.
Inventor: Yoav ETZIONI , Simchon FAIGLER , Gilad ALMOGY , Mark PRATT , Florian OBERSTRASS
CPC classification number: G16B20/20 , C12Q1/6874 , G06F17/00 , G16B20/00 , G16B30/00 , G16B30/10 , C12Q2600/156 , C12Q2600/158 , G01N2021/6439
Abstract: Methods for detecting a short genetic variant in a test sample are described herein. In some exemplary methods, the short genetic variant is called using one or match scores, which are determined using one or more sequencing data sets obtained from a test nucleic acid molecule, wherein the test sequencing data sets are determined by sequencing the test nucleic acid molecule using non-terminating nucleotides provided in separate nucleotide flows according to a flow-cycle order. Also described herein are methods of sequencing a test nucleic acid molecule using two or more different flow-cycle orders and/or extended flow cycle orders having five or more nucleotide flows per flow cycle.
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公开(公告)号:US20210054442A1
公开(公告)日:2021-02-25
申请号:US17086203
申请日:2020-10-30
Applicant: Ultima Genomics, Inc.
Inventor: Mark PRATT , Gilad ALMOGY , Dumitru BRINZA , Eliane TREPAGNIER , Omer BARAD , Yoav ETZIONI , Florian OBERSTRASS
IPC: C12Q1/6827 , C12Q1/6869 , G16B30/00
Abstract: Described herein are methods of generating a coupled sequencing read pair for a polynucleotide, and methods of analyzing the coupled sequencing read pair. The coupled sequencing read pair can be analyzed to detect polynucleotide variants, including at loci that are not directly sequenced within the coupled sequencing read pair. Other analytical methods can include using coupled sequencing read pairs to construct or validate a consensus sequence. The coupled sequencing read pair may be generated for a polynucleotide by generating sequencing data for a first region by extending a primer using labeled nucleotides; further extending the primer through a second region using nucleotides provided in a second region flow order, wherein primer extension through the second region is faster than primer extension through the first region; and generating sequencing data associated with a sequence of a third region of the polynucleotide by further extending the primer using labeled nucleotides.
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公开(公告)号:US20200377937A1
公开(公告)日:2020-12-03
申请号:US16864971
申请日:2020-05-01
Applicant: Ultima Genomics, Inc.
Inventor: Mark PRATT , Gilad ALMOGY , Dumitru BRINZA , Eliane TREPAGNIER , Omer BARAD , Yoav ETZIONI , Florian OBERSTRASS
IPC: C12Q1/6869 , G16B30/00
Abstract: Described herein are methods of generating a coupled sequencing read pair for a polynucleotide, and methods of analyzing the coupled sequencing read pair. The coupled sequencing read pair can be analyzed to detect polynucleotide variants, including at loci that are not directly sequenced within the coupled sequencing read pair. Other analytical methods can include using coupled sequencing read pairs to construct or validate a consensus sequence. The coupled sequencing read pair may be generated for a polynucleotide by generating sequencing data for a first region by extending a primer using labeled nucleotides; further extending the primer through a second region using nucleotides provided in a second region flow order, wherein primer extension through the second region is faster than primer extension through the first region; and generating sequencing data associated with a sequence of a third region of the polynucleotide by further extending the primer using labeled nucleotides.
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公开(公告)号:US20240274237A1
公开(公告)日:2024-08-15
申请号:US18410051
申请日:2024-01-11
Applicant: ULTIMA GENOMICS, INC.
Inventor: Yoav ETZIONI , Omer BARAD , Florian OBERSTRASS , Edward PERELMAN , Mark GESHEL
CPC classification number: G16B30/00 , C12Q1/6876 , G16B45/00 , C12Q1/6869 , G16B35/00
Abstract: Provided herein are methods, systems, and compositions for generating and selecting barcode sequences. A method for selecting barcode sequences may comprise generating a set of sequence data for the barcode sequences and filtering the data using one or more criteria or filters to provide a filtered set of barcode sequences. The resultant filtered set of barcode sequences may satisfy one or more selection criteria and may be sufficiently diverse from one another.
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公开(公告)号:US20240257906A1
公开(公告)日:2024-08-01
申请号:US18617448
申请日:2024-03-26
Applicant: Ultima Genomics, Inc.
Inventor: Yoav ETZIONI , Simchon FAIGLER , Gilad ALMOGY , Mark PRATT , Florian OBERSTRASS , Omer BARAD
CPC classification number: G16B20/20 , C12Q1/6874 , G06F17/00 , G16B20/00 , G16B30/00 , G16B30/10 , C12Q2600/156 , C12Q2600/158 , G01N2021/6439
Abstract: Methods for detecting a short genetic variant in a test sample are described herein. In some exemplary methods, the short genetic variant is called using one or match scores, which are determined using one or more sequencing data sets obtained from a test nucleic acid molecule, wherein the test sequencing data sets are determined by sequencing the test nucleic acid molecule using non-terminating nucleotides provided in separate nucleotide flows according to a flow-cycle order. Also described herein are methods of sequencing a test nucleic acid molecule using two or more different flow-cycle orders and/or extended flow cycle orders having five or more nucleotide flows per flow cycle.
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公开(公告)号:US20230407385A1
公开(公告)日:2023-12-21
申请号:US18035073
申请日:2021-11-03
Applicant: Ultima Genomics, Inc.
Inventor: Omer BARAD , Mark PRATT , Eliane TREPAGNIER , Yoav ETZIONI , Florian OBERSTRASS , Gilad ALMOGY , Dumitru BRINZA
IPC: C12Q1/6874
CPC classification number: C12Q1/6874
Abstract: Described herein are methods synchronizing sequencing primers within a sequencing cluster and methods of generating long-range sequencing reads. The methods can include hybridizing primers to polynucleotide copies within a sequencing cluster; extending the primers through a first region of the polynucleotide copies using labeled nucleotides according to a sequencing flow order; extending the primers through a second region of the polynucleotide copies using one or more re-phasing flow steps that each include at least two different types of nucleotide bases; and extending the primers through a third region of the polynucleotide copies using labeled nucleotides according to the sequencing cycle. The rephasing flow steps may be initiated after a predetermined number of sequencing flow steps, after a measured sequencing signal strength falls below a predetermined sequencing signal strength threshold, or a measured sequencing signal-to-noise ratio falls below a sequencing signal-to-noise ratio threshold.
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