CA3167253A1 - Procedes et systemes de dosage de biopsie de liquide - Google Patents

Procedes et systemes de dosage de biopsie de liquide Download PDF

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Publication number
CA3167253A1
CA3167253A1 CA3167253A CA3167253A CA3167253A1 CA 3167253 A1 CA3167253 A1 CA 3167253A1 CA 3167253 A CA3167253 A CA 3167253A CA 3167253 A CA3167253 A CA 3167253A CA 3167253 A1 CA3167253 A1 CA 3167253A1
Authority
CA
Canada
Prior art keywords
bin
sequence
segment
level
measure
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Pending
Application number
CA3167253A
Other languages
English (en)
Inventor
Robert Tell
Wei Zhu
Justin David Finkle
Christine LO
Terri M. Driessen
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Tempus Ai Inc
Original Assignee
Tempus Labs Inc
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Tempus Labs Inc filed Critical Tempus Labs Inc
Publication of CA3167253A1 publication Critical patent/CA3167253A1/fr
Pending legal-status Critical Current

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Classifications

    • 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
    • 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
    • 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

Landscapes

  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Medical Informatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biophysics (AREA)
  • Biomedical Technology (AREA)
  • Public Health (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Evolutionary Biology (AREA)
  • Analytical Chemistry (AREA)
  • Chemical & Material Sciences (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Data Mining & Analysis (AREA)
  • Databases & Information Systems (AREA)
  • Pathology (AREA)
  • Molecular Biology (AREA)
  • Epidemiology (AREA)
  • Primary Health Care (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Investigating Or Analysing Biological Materials (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.
CA3167253A 2020-02-18 2021-02-18 Procedes et systemes de dosage de biopsie de liquide Pending CA3167253A1 (fr)

Applications Claiming Priority (9)

Application Number Priority Date Filing Date Title
US202062978130P 2020-02-18 2020-02-18
US62/978,130 2020-02-18
US202063041272P 2020-06-19 2020-06-19
US202063041293P 2020-06-19 2020-06-19
US202063041424P 2020-06-19 2020-06-19
US63/041,424 2020-06-19
US63/041,272 2020-06-19
US63/041,293 2020-06-19
PCT/US2021/018622 WO2021168146A1 (fr) 2020-02-18 2021-02-18 Procédés et systèmes de dosage de biopsie de liquide

Publications (1)

Publication Number Publication Date
CA3167253A1 true CA3167253A1 (fr) 2021-08-26

Family

ID=74871834

Family Applications (1)

Application Number Title Priority Date Filing Date
CA3167253A Pending CA3167253A1 (fr) 2020-02-18 2021-02-18 Procedes et systemes de dosage de biopsie de liquide

Country Status (4)

Country Link
EP (1) EP4107732A1 (fr)
AU (1) AU2021224670A1 (fr)
CA (1) CA3167253A1 (fr)
WO (1) WO2021168146A1 (fr)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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

Families Citing this family (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA3204451A1 (fr) 2021-01-07 2022-07-14 Francisco M. De La Vega Systemes et procedes d'inference de variation du nombre de copies de sequencage du genome entier a faible couverture et de sequencage de l'exome entier conjoints a des fins de diagnostic cliniqu
US20240076744A1 (en) 2021-01-21 2024-03-07 Tempus Labs, Inc. METHODS AND SYSTEMS FOR mRNA BOUNDARY ANALYSIS IN NEXT GENERATION SEQUENCING
JP2024512372A (ja) * 2021-03-09 2024-03-19 ガーダント ヘルス， インコーポレイテッド オフターゲットポリヌクレオチド配列決定データに基づく腫瘍の存在の検出
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

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2014130393A1 (fr) 2013-02-22 2014-08-28 Mawi DNA Technologies LLC Dispositif de prélèvement et de recueil d'échantillons

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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

Also Published As

Publication number Publication date
WO2021168146A1 (fr) 2021-08-26
AU2021224670A1 (en) 2022-09-01
EP4107732A1 (fr) 2022-12-28

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