CA3167253A1 - Procedes et systemes de dosage de biopsie de liquide - Google Patents
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/10—Ploidy or copy number detection
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
- G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
- G16H50/20—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for computer-aided diagnosis, e.g. based on medical expert systems
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- Engineering & Computer Science (AREA)
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- Primary Health Care (AREA)
- Genetics & Genomics (AREA)
- Molecular Biology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
- Apparatus Associated With Microorganisms And Enzymes (AREA)
Abstract
L'invention concerne des procédés, des systèmes et un logiciel permettant de valider une variation d'un nombre de copies, de valider une variante de séquence somatique, et/ou de déterminer des estimations de fractions tumorales circulantes à l'aide de lectures de séquences sur cible et hors cible chez un sujet de test. Une annotation d'état de nombre de copies d'un segment génomique est validée par application d'un premier ensemble de données à une pluralité de filtres comprenant un filtre de mesure de rapport de séquence de niveau binaire de tendance centrale, un filtre de confiance, et un filtre de mesure de rapport de séquence de niveau binaire de tendance centrale-plus-écart. Une variante de séquence somatique est validée par comparaison d'un compte de fragments d'allèle variant d'une variante de séquence somatique candidate d'un locus respectif, par rapport à un seuil de compte de variantes dynamiques du locus dans une séquence de référence respective. Une fraction tumorale circulante est estimée sur la base d'une mesure d'ajustement entre des rapports de segment génomique-couverture de niveau et des états de copie entière sur une pluralité de fractions tumorales en circulation simulées.
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US63/041,424 | 2020-06-19 | ||
PCT/US2021/018622 WO2021168146A1 (fr) | 2020-02-18 | 2021-02-18 | Procédés et systèmes de dosage de biopsie de liquide |
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AU (1) | AU2021224670A1 (fr) |
CA (1) | CA3167253A1 (fr) |
WO (1) | WO2021168146A1 (fr) |
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CN117272941A (zh) * | 2023-09-21 | 2023-12-22 | 北京百度网讯科技有限公司 | 数据处理方法、装置、设备、计算机可读存储介质及产品 |
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US20220215900A1 (en) | 2021-01-07 | 2022-07-07 | Tempus Labs, Inc. | Systems and methods for joint low-coverage whole genome sequencing and whole exome sequencing inference of copy number variation for clinical diagnostics |
US20240076744A1 (en) | 2021-01-21 | 2024-03-07 | Tempus Labs, Inc. | METHODS AND SYSTEMS FOR mRNA BOUNDARY ANALYSIS IN NEXT GENERATION SEQUENCING |
US11791035B2 (en) * | 2021-03-09 | 2023-10-17 | PAIGE.AI, Inc. | Systems and methods for artificial intelligence powered molecular workflow verifying slide and block quality for testing |
US20220344004A1 (en) * | 2021-03-09 | 2022-10-27 | Guardant Health, Inc. | Detecting the presence of a tumor based on off-target polynucleotide sequencing data |
WO2023034704A1 (fr) * | 2021-08-31 | 2023-03-09 | The Regents Of The University Of California | Produits et procédés pour annoter une fonction génique à l'aide de cellules non cancéreuses humaines haploïdes localement |
JP2023080642A (ja) * | 2021-11-30 | 2023-06-09 | シスメックス株式会社 | 遺伝子変異の病原性の水準を報告するレポートを生成するレポート生成方法、及びレポート生成装置 |
WO2023102313A1 (fr) * | 2021-11-30 | 2023-06-08 | 10X Genomics, Inc. | Systèmes et procédés d'identification de régions d'aneuploïdie dans un tissu |
WO2024050366A1 (fr) * | 2022-08-30 | 2024-03-07 | Foundation Medicine, Inc. | Systèmes et méthodes de classification et de traitement de cancers associés à une déficience de la réparation homologue |
WO2024091545A1 (fr) * | 2022-10-25 | 2024-05-02 | Cornell University | Suppression d'erreur d'acide nucléique |
CN117893177B (zh) * | 2024-03-15 | 2024-06-07 | 山东得和明兴生物科技有限公司 | 一种利用弹性填料进行池塘水质调控的方法 |
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EP2958498B1 (fr) | 2013-02-22 | 2018-08-29 | Mawi DNA Technologies LLC | Dispositif de prélèvement et de recueil d'échantillons |
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- 2021-02-18 EP EP21711691.2A patent/EP4107732A1/fr active Pending
- 2021-02-18 CA CA3167253A patent/CA3167253A1/fr active Pending
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CN117272941A (zh) * | 2023-09-21 | 2023-12-22 | 北京百度网讯科技有限公司 | 数据处理方法、装置、设备、计算机可读存储介质及产品 |
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EP4107732A1 (fr) | 2022-12-28 |
WO2021168146A1 (fr) | 2021-08-26 |
AU2021224670A1 (en) | 2022-09-01 |
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