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1. 发明申请

WO2022002861A1 AN EVENT CHAIN REACTION SYSTEM 审中-公开
公开(公告)号：WO2022002861A1
公开(公告)日：2022-01-06
申请号：PCT/EP2021/067716
申请日：2021-06-28
申请人： F. HOFFMANN-LA ROCHE AG , ROCHE DIAGNOSTICS GMBH , ROCHE MOLECULAR SYSTEMS, INC.
发明人： JIMÉNEZ RODA, Javier , MAZPULE ELIZALDE, Julene
IPC分类号： G06F9/54 , G16H10/40 , G16H40/63 , G16H40/67 , G05B23/02 , G05B23/0245 , G06F9/542 , G16H40/60
摘要： An event chain reaction system (128) is disclosed. The event chain reaction system (128) comprises: - at least one communication interface (156) configured for receiving at least one event stream (160), wherein the event stream (160) comprises at least one sequence of ordered events generated by at least one analytical system (112), wherein each event comprises information about a change in a state of the analytical system (112) and/or any of loaded resources; - at least one chain reaction component (158) comprising at least one chain matching element (162), wherein the chain matching element (162) is configured for recognizing at least one chain on the event stream (160), wherein the chain comprises a set of ordered events to be searched, wherein a first event of the chain defines a start event (166), wherein the chain matching element (162) is configured for identifying the start event (166) in the event stream (160) and, upon identifying the start event (166), the chain matching element (162) is configured for successively determining whether the other events of the chain match to one of the events of the event stream (160), wherein, in case all events of the chain are matched to events of the event stream (160), the chain matching element (162) is configured for triggering at least one reaction, wherein the reaction comprises generating information that a chain was matched and/or issuing a command to at least one component of the analytical system (112), wherein, in case one of the events of the chain is not matched, the chain matching element (162) is configured for resetting to its initial state and waiting for the start event (166). Further, a system (110) for monitoring and/or controlling, a computer implemented method and a computer program for determining at least one feature of at least one component of an analytical system (112), a computer implemented method and a computer program for monitoring and/or controlling at least one feature of at least one component of an analytical system (112) are disclosed.

2. 发明申请

WO2021099521A1 SYSTEMS AND METHODS FOR CONTAMINATION DETECTION IN NEXT GENERATION SEQUENCING SAMPLES 审中-公开
公开(公告)号：WO2021099521A1
公开(公告)日：2021-05-27
申请号：PCT/EP2020/082786
申请日：2020-11-20
申请人： F. HOFFMANN-LA ROCHE AG , ROCHE DIAGNOSTICS GMBH , ROCHE SEQUENCING SOLUTIONS, INC.
发明人： KAMNEVA, Olga , WANG, Shuo
IPC分类号： G16B20/00 , G16B30/00
摘要： Here we describe a statistical approach based on beta mixture modelling to detect contamination and report contamination levels as both point estimates and confidence intervals in liquid biopsy samples. We validate our method with both in silico simulation and in vitro contamination spiked samples. Although we focus on liquid biopsy samples, the same strategy is applicable to any generic NGS application with minor modifications. For example, tissue samples from a biopsy can be used according to the systems and methods described herein.

3. 发明申请

WO2021013805A1 SYSTEMS AND METHODS FOR CELL OF ORIGIN DETERMINATION FROM VARIANT CALLING DATA 审中-公开
公开(公告)号：WO2021013805A1
公开(公告)日：2021-01-28
申请号：PCT/EP2020/070472
申请日：2020-07-20
申请人： F. HOFFMANN-LA ROCHE AG , ROCHE DIAGNOSTICS GMBH , ROCHE SEQUENCING SOLUTIONS, INC.
发明人： KURZ, David , LIN, Hai , LOVEJOY, Alexander , LUONG, Khai , TABARI, Ehsan
IPC分类号： C12Q1/6886 , G16B20/20 , G16B20/30 , G16B20/50 , G16B40/20
摘要： The present invention relates generally to classification of biological samples, and more specifically to cell of original classification. In particular, some embodiments of the invention relate to diffuse large B cell lymphoma cell of origin classification using machine learning models. The machine learning models can be based on decision trees such as a random forest algorithm or a gradient boosted decision tree. Features for the models can be determined through analysis of variant data from plasma or blood samples from a plurality of subjects with the disease.

4. 发明申请

WO2020035446A1 SYSTEMS AND METHODS FOR USING NEURAL NETWORKS FOR GERMLINE AND SOMATIC VARIANT CALLING 审中-公开
公开(公告)号：WO2020035446A1
公开(公告)日：2020-02-20
申请号：PCT/EP2019/071580
申请日：2019-08-12
申请人： F. HOFFMANN-LA ROCHE AG , ROCHE DIAGNOSTICS GMBH , ROCHE SEQUENCING SOLUTIONS, INC.
发明人： LAM, Hugo Y. K. , MOHIYUDDIN, Marghoob , SAHRAEIAN, Mohammad
IPC分类号： G16B20/20 , G16B40/20 , G16B30/10
摘要： The present disclosure provides systems and methods that utilize neural networks such as convolutional neural networks to analyze genomic sequence data generated by a sequencer and generate accurate prediction data identifying and describing germline and/or somatic variants within the sequence data.

5. 发明申请

WO2019197401A1 FABRICATION OF TUNNELING JUNCTIONS WITH NANOPORES FOR MOLECULAR RECOGNITION 审中-公开
公开(公告)号：WO2019197401A1
公开(公告)日：2019-10-17
申请号：PCT/EP2019/058948
申请日：2019-04-09
申请人： F. HOFFMANN-LA ROCHE AG , ROCHE DIAGNOSTICS GMBH , ROCHE SEQUENCING SOLUTIONS, INC.
发明人： TOPOLANCIK, Juraj , MAJZIK, Zsolt , MITCHELL, Flint
IPC分类号： C12Q1/6869 , G01N27/327 , G01N33/487
摘要： Embodiments of the present technology may allow for improved and more reliable tunneling junctions and methods of fabricating the tunneling junctions. Electrical shorting issues may be reduced by depositing electrodes without a sharp sidewall and comer but instead with a sloping or curved sidewall. Layers deposited on top of the electrode layer may then be able to adequately cover the underlying electrode layer and therefore reduce or prevent shorting. Additionally, two insulating materials may be used as the dielectric layer may reduce the possibility of incomplete coverage and the possibility of flaking. Furthermore, the electrodes may be tapered from the contact area to the junction area to provide a thin electrode where the hole is to be patterned, while the thicker contact area reduces sheet resistance. The electrode may also be patterned to be wider at the contact area and narrower at the junction area.

6. 发明申请

WO2021249985A1 FARADAIC SYSTEMS AND METHODS FOR SELF-LIMITING PROTEIN PORE INSERTION IN A MEMBRANE 审中-公开
公开(公告)号：WO2021249985A1
公开(公告)日：2021-12-16
申请号：PCT/EP2021/065252
申请日：2021-06-08
申请人： F. HOFFMANN-LA ROCHE AG , ROCHE DIAGNOSTICS GMBH , ROCHE SEQUENCING SOLUTIONS, INC.
发明人： BARRALL, Goeffrey , HARADA, Eric, Takeshi , KOMADINA, Jason , MANEY JR., J. William , YANG, Charlotte
IPC分类号： C12Q1/6869 , G01N33/487 , G01N27/413 , B01L3/00 , G01N33/48721
摘要： Systems and methods for inserting a single pore (316) into a membrane (314) under faradaic conditions are described herein. A stepped or ramped voltage waveform can be applied across the membranes of the cells of an array, where the voltage waveform starts at first voltage and increases in magnitude over a period of time to a second voltage. The voltage waveform has a polarity that maintains a first species of a redox couple (308) in its current oxidation state. The first voltage is selected to be low enough to reduce the risk of damaging the membrane, while the rate of voltage increase is selected to provide sufficient time for the pores to insert into the membranes. Once a pore is inserted into the membrane, the voltage across the membrane rapidly drops, thereby reducing the risk of damaging the membrane even if the applied voltage between the electrodes is further increased.

7. 发明申请

WO2021058456A1 INTERFACE FOR AUTOMATED FLUID INJECTION 审中-公开
公开(公告)号：WO2021058456A1
公开(公告)日：2021-04-01
申请号：PCT/EP2020/076372
申请日：2020-09-22
申请人： F. HOFFMANN-LA ROCHE AG , ROCHE DIAGNOSTICS GMBH , ROCHE SEQUENCING SOLUTIONS, INC.
发明人： DIPIETRO, Matthew , ENGELBART, Damion , LIU, Andrew , NIELSEN, William , WOJTOWICZ, Janusz B. , YUAN, Robert A.
IPC分类号： G01N33/487
摘要： A consumable device used in a nanopore based sequencing system can include a nanopore chip, a flow cell with one or more flow channels, and a flow cell cover. A fluidic interface can be used to deliver fluid to the flow cell. The fluid interface can include a flow cell boss and the flow cell cover can include a receptacle for receiving the flow cell boss. A dispense tip can be used to introduce fluid into the flow cell through the flow cell boss.

8. 发明申请

WO2020136133A1 TUMOR CLASSIFICATION BASED ON PREDICTED TUMOR MUTATIONAL BURDEN 审中-公开
公开(公告)号：WO2020136133A1
公开(公告)日：2020-07-02
申请号：PCT/EP2019/086781
申请日：2019-12-20
申请人： F. HOFFMANN-LA ROCHE AG , ROCHE DIAGNOSTICS GMBH , ROCHE SEQUENCING SOLUTIONS, INC.
发明人： LAM, Hugo Y. K. , MOHIYUDDIN, Marghoob , YAO, Lijing
IPC分类号： G16B20/00
摘要： The present disclosure provides systems and methods of classifying and/or identifying a cancer subtype. The present disclosure also provides methods of enhancing the prediction of a tumor mutational burden by using both synonymous and non-synonymous somatic mutations in the computation method. It is believed that by increasing the number of mutations in the computation of the tumor mutational burden, a comparatively more consistent tumor mutational burden may be derived, especially for targeted-panel sequencing. It is believed that the consistent computation of the tumor mutational burden from targeted panels allows for computationally quicker and less costly analysis of sequencing data as compared with a tumor mutational burden computed from whole exome sequencing data.

9. 发明申请

WO2020043653A3 NANOPORE SEQUENCING DEVICE COMPRISING RUTHENIUM-CONTAINING ELECTRODES 审中-公开
公开(公告)号：WO2020043653A3
公开(公告)日：2020-03-05
申请号：PCT/EP2019/072684
申请日：2019-08-26
申请人： F. HOFFMANN-LA ROCHE AG , ROCHE DIAGNOSTICS GMBH , ROCHE MOLECULAR SYSTEMS, INC.
发明人： AU, Wing Kei , KOMADINA, Jason , NG, Marowen
IPC分类号： G01N33/487 , B01L3/00 , C12Q1/68
摘要： Disclosed herein are nanopore sequencing devices which include electrodes comprising ruthenium-containing materials, such as ruthenium containing materials having a double layer capacitance ranging from between about 180 pF/um 2 to about 320 pF/um 2 . In addition methods of manufacture of such materials and electrodes are disclosed.

10. 发明申请

WO2020002516A1 MULTIPLEXING ANALOG COMPONENT IN BIOCHEMICAL SENSOR ARRAYS 审中-公开
公开(公告)号：WO2020002516A1
公开(公告)日：2020-01-02
申请号：PCT/EP2019/067185
申请日：2019-06-27
申请人： F. HOFFMANN-LA ROCHE AG , ROCHE DIAGNOSTICS GMBH , ROCHE SEQUENCING SOLUTIONS, INC.
发明人： MANEY JR., J. William
IPC分类号： C12Q1/6869 , G01N33/487
摘要： Techniques for increasing the density and the number of cells on a nanopore sensor chip are disclosed. Two or more cells of the nanopore sensor chip share some analog components (e.g., an integration capacitor and/or a read-out transistor) through one or more digital relays. Under the control of various control signals during a sampling period of the sensor chip, the two or more cells are connected one at time to the shared analog components and are measured one at a time using the shared analog components. In this way, the average size of the cells on the sensor chip is reduced to increase the cell density without affecting the analog measurement performance of the cells.

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