IL274001A - A molecular evidence platform for auditable pipeline optimization of variant decoding in genetic and genomic testing and analysis - Google Patents

A molecular evidence platform for auditable pipeline optimization of variant decoding in genetic and genomic testing and analysis

Info

Publication number
IL274001A
IL274001A IL274001A IL27400120A IL274001A IL 274001 A IL274001 A IL 274001A IL 274001 A IL274001 A IL 274001A IL 27400120 A IL27400120 A IL 27400120A IL 274001 A IL274001 A IL 274001A
Authority
IL
Israel
Prior art keywords
auditable
genetic
analysis
continuous optimization
molecular evidence
Prior art date
Application number
IL274001A
Other languages
English (en)
Hebrew (he)
Original Assignee
Jungla Llc
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 Jungla Llc filed Critical Jungla Llc
Publication of IL274001A publication Critical patent/IL274001A/en

Links

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
    • G16B20/20—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

Landscapes

  • 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)
  • Analytical Chemistry (AREA)
  • Chemical & Material Sciences (AREA)
  • Bioethics (AREA)
  • Molecular Biology (AREA)
  • Signal Processing (AREA)
  • Computer Networks & Wireless Communication (AREA)
  • Artificial Intelligence (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Evolutionary Computation (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)
  • Physiology (AREA)
  • Power Engineering (AREA)
  • Computing Systems (AREA)
  • Mathematical Physics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)
  • Information Retrieval, Db Structures And Fs Structures Therefor (AREA)
IL274001A 2017-10-17 2020-04-16 A molecular evidence platform for auditable pipeline optimization of variant decoding in genetic and genomic testing and analysis IL274001A (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201762573458P 2017-10-17 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
IL274001A true IL274001A (en) 2020-05-31

Family

ID=66174641

Family Applications (1)

Application Number Title Priority Date Filing Date
IL274001A IL274001A (en) 2017-10-17 2020-04-16 A molecular evidence platform for auditable pipeline optimization of variant decoding in genetic and genomic testing and analysis

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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US10764062B2 (en) * 2019-06-03 2020-09-01 Alibaba Group Holding Limited Blockchain ledger compression
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CN110957006B (zh) * 2019-12-14 2023-08-11 杭州联川基因诊断技术有限公司 一种brca1/2基因变异的解读方法
CN112489812B (zh) * 2020-11-30 2021-07-06 北京华彬立成科技有限公司 药物开发分析方法、装置、电子设备和存储介质
US20230351337A1 (en) * 2022-04-29 2023-11-02 Bank Of America Corporation Generating and securing digital checks using distributed ledger and embedded chip methods
US12211039B2 (en) * 2022-09-20 2025-01-28 Veiovia Limited Externally validated proof of work for appending a block record to a blockchain with a data broker server
US11652650B1 (en) * 2022-09-20 2023-05-16 Veiovia Limited Externally validated proof of work for appending a block record to a blockchain with a commitment database server
US12216661B2 (en) 2022-09-20 2025-02-04 Veiovia Ltd. Externally validated proof of work for appending a block record to a blockchain with a mining node
WO2025115360A1 (ja) * 2023-11-30 2025-06-05 富士フイルム株式会社 木構造生成方法、情報処理装置、情報処理システム、及び木構造生成プログラム
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
BR112020007449A2 (pt) 2020-10-20
US12136472B2 (en) 2024-11-05
CA3079389A1 (en) 2019-04-25
US20240006021A1 (en) 2024-01-04
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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