BR112020007449A2 - plataforma de evidência molecular para otimização auditável e contínua de interpretação de variantes em testes e análises genéticas e genômicas - Google Patents

plataforma de evidência molecular para otimização auditável e contínua de interpretação de variantes em testes e análises genéticas e genômicas Download PDF

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Publication number
BR112020007449A2
BR112020007449A2 BR112020007449-7A BR112020007449A BR112020007449A2 BR 112020007449 A2 BR112020007449 A2 BR 112020007449A2 BR 112020007449 A BR112020007449 A BR 112020007449A BR 112020007449 A2 BR112020007449 A2 BR 112020007449A2
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BR
Brazil
Prior art keywords
data
evidence
variant
performance
validation
Prior art date
Application number
BR112020007449-7A
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English (en)
Portuguese (pt)
Inventor
Alexandre Colavin
Carlos L. Araya
Jason A. Reuter
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Jungla Llc
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Publication of BR112020007449A2 publication Critical patent/BR112020007449A2/pt

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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
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • G—PHYSICS
    • G06—COMPUTING OR CALCULATING; COUNTING
    • G06F—ELECTRIC DIGITAL DATA PROCESSING
    • G06F18/00—Pattern recognition
    • G06F18/20—Analysing
    • G06F18/21—Design or setup of recognition systems or techniques; Extraction of features in feature space; Blind source separation
    • G06F18/211—Selection of the most significant subset of features
    • G06F18/2113—Selection of the most significant subset of features by ranking or filtering the set of features, e.g. using a measure of variance or of feature cross-correlation
    • G—PHYSICS
    • G06—COMPUTING OR CALCULATING; COUNTING
    • G06F—ELECTRIC DIGITAL DATA PROCESSING
    • G06F18/00—Pattern recognition
    • G06F18/20—Analysing
    • G06F18/21—Design or setup of recognition systems or techniques; Extraction of features in feature space; Blind source separation
    • G06F18/217—Validation; Performance evaluation; Active pattern learning techniques
    • G—PHYSICS
    • G06—COMPUTING OR CALCULATING; COUNTING
    • G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
    • G06N20/00—Machine learning
    • 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
    • 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
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • 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
    • G16B5/00—ICT specially adapted for modelling or simulations in systems biology, e.g. gene-regulatory networks, protein interaction networks or metabolic networks
    • 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
    • G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics
    • 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
    • G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics
    • G16B50/10—Ontologies; Annotations
    • H—ELECTRICITY
    • H04—ELECTRIC COMMUNICATION TECHNIQUE
    • H04L—TRANSMISSION OF DIGITAL INFORMATION, e.g. TELEGRAPHIC COMMUNICATION
    • H04L67/00—Network arrangements or protocols for supporting network services or applications
    • H04L67/01—Protocols
    • H04L67/10—Protocols in which an application is distributed across nodes in the network
    • H—ELECTRICITY
    • H04—ELECTRIC COMMUNICATION TECHNIQUE
    • H04L—TRANSMISSION OF DIGITAL INFORMATION, e.g. TELEGRAPHIC COMMUNICATION
    • H04L9/00—Cryptographic mechanisms or cryptographic arrangements for secret or secure communications; Network security protocols
    • H04L9/06—Cryptographic mechanisms or cryptographic arrangements for secret or secure communications; Network security protocols the encryption apparatus using shift registers or memories for block-wise or stream coding, e.g. DES systems or RC4; Hash functions; Pseudorandom sequence generators
    • H04L9/0618—Block ciphers, i.e. encrypting groups of characters of a plain text message using fixed encryption transformation
    • H04L9/0637—Modes of operation, e.g. cipher block chaining [CBC], electronic codebook [ECB] or Galois/counter mode [GCM]
    • H—ELECTRICITY
    • H04—ELECTRIC COMMUNICATION TECHNIQUE
    • H04L—TRANSMISSION OF DIGITAL INFORMATION, e.g. TELEGRAPHIC COMMUNICATION
    • H04L9/00—Cryptographic mechanisms or cryptographic arrangements for secret or secure communications; Network security protocols
    • H04L9/06—Cryptographic mechanisms or cryptographic arrangements for secret or secure communications; Network security protocols the encryption apparatus using shift registers or memories for block-wise or stream coding, e.g. DES systems or RC4; Hash functions; Pseudorandom sequence generators
    • H04L9/0643—Hash functions, e.g. MD5, SHA, HMAC or f9 MAC
    • H—ELECTRICITY
    • H04—ELECTRIC COMMUNICATION TECHNIQUE
    • H04L—TRANSMISSION OF DIGITAL INFORMATION, e.g. TELEGRAPHIC COMMUNICATION
    • H04L9/00—Cryptographic mechanisms or cryptographic arrangements for secret or secure communications; Network security protocols
    • H04L9/50—Cryptographic mechanisms or cryptographic arrangements for secret or secure communications; Network security protocols using hash chains, e.g. blockchains or hash trees

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  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Theoretical Computer Science (AREA)
  • Medical Informatics (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • General Health & Medical Sciences (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Data Mining & Analysis (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Databases & Information Systems (AREA)
  • Bioethics (AREA)
  • Analytical Chemistry (AREA)
  • Chemical & Material Sciences (AREA)
  • Molecular Biology (AREA)
  • Signal Processing (AREA)
  • Computer Networks & Wireless Communication (AREA)
  • Evolutionary Computation (AREA)
  • Artificial Intelligence (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Genetics & Genomics (AREA)
  • Software Systems (AREA)
  • Computer Security & Cryptography (AREA)
  • General Engineering & Computer Science (AREA)
  • General Physics & Mathematics (AREA)
  • Public Health (AREA)
  • Epidemiology (AREA)
  • Power Engineering (AREA)
  • Physiology (AREA)
  • Mathematical Physics (AREA)
  • Computing Systems (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Information Retrieval, Db Structures And Fs Structures Therefor (AREA)
  • Peptides Or Proteins (AREA)
BR112020007449-7A 2017-10-17 2018-10-17 plataforma de evidência molecular para otimização auditável e contínua de interpretação de variantes em testes e análises genéticas e genômicas BR112020007449A2 (pt)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201762573458P 2017-10-17 2017-10-17
US62/573,458 2017-10-17
PCT/US2018/056304 WO2019079464A1 (en) 2017-10-17 2018-10-17 PLATFORM OF MOLECULAR EVIDENCE FOR CONTINUOUS AND VERIFY OPTIMIZATION OF INTERPRETATION OF VARIANTS IN TESTS AND GENETIC ANALYZES

Publications (1)

Publication Number Publication Date
BR112020007449A2 true BR112020007449A2 (pt) 2020-10-20

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BR112020007449-7A BR112020007449A2 (pt) 2017-10-17 2018-10-17 plataforma de evidência molecular para otimização auditável e contínua de interpretação de variantes em testes e análises genéticas e genômicas

Country Status (10)

Country Link
US (4) US11462299B2 (enExample)
EP (1) EP3701534B1 (enExample)
JP (1) JP7258871B2 (enExample)
CN (1) CN112074909B (enExample)
AU (1) AU2018350975B2 (enExample)
BR (1) BR112020007449A2 (enExample)
CA (1) CA3079389A1 (enExample)
IL (1) IL274001A (enExample)
MX (1) MX2020003709A (enExample)
WO (1) WO2019079464A1 (enExample)

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CN119719955B (zh) * 2024-12-17 2025-09-05 四川大学华西医院 一种基于贝叶斯模型的证据优化方法、装置、计算机设备及存储介质

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Also Published As

Publication number Publication date
US20230117854A1 (en) 2023-04-20
MX2020003709A (es) 2020-07-22
CN112074909A (zh) 2020-12-11
US20200251179A1 (en) 2020-08-06
US20190189246A1 (en) 2019-06-20
US11798651B2 (en) 2023-10-24
AU2018350975A1 (en) 2020-05-07
US11462299B2 (en) 2022-10-04
EP3701534A4 (en) 2021-08-04
JP2020537795A (ja) 2020-12-24
US12136472B2 (en) 2024-11-05
CA3079389A1 (en) 2019-04-25
US20240006021A1 (en) 2024-01-04
IL274001A (en) 2020-05-31
AU2018350975B2 (en) 2023-11-23
JP7258871B2 (ja) 2023-04-17
EP3701534C0 (en) 2024-04-10
EP3701534B1 (en) 2024-04-10
CN112074909B (zh) 2024-03-19
EP3701534A1 (en) 2020-09-02
WO2019079464A1 (en) 2019-04-25

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B350 Update of information on the portal [chapter 15.35 patent gazette]
B25A Requested transfer of rights approved

Owner name: INVITAE CORPORATION (US)

B06W Patent application suspended after preliminary examination (for patents with searches from other patent authorities) chapter 6.23 patent gazette]
B11B Dismissal acc. art. 36, par 1 of ipl - no reply within 90 days to fullfil the necessary requirements