MX2020003709A - Plataforma de evidencia molecular para la optimización continua, auditable de la interpretación de variantes en pruebas y análisis genéticos y genómicos. - Google Patents

Plataforma de evidencia molecular para la optimización continua, auditable de la interpretación de variantes en pruebas y análisis genéticos y genómicos.

Info

Publication number
MX2020003709A
MX2020003709A MX2020003709A MX2020003709A MX2020003709A MX 2020003709 A MX2020003709 A MX 2020003709A MX 2020003709 A MX2020003709 A MX 2020003709A MX 2020003709 A MX2020003709 A MX 2020003709A MX 2020003709 A MX2020003709 A MX 2020003709A
Authority
MX
Mexico
Prior art keywords
auditable
genetic
analysis
continuous optimization
molecular evidence
Prior art date
Application number
MX2020003709A
Other languages
English (en)
Spanish (es)
Inventor
Carlos L Araya
Jason A Reuter
Alexandre Colavin
Original Assignee
Invitae Corp
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 Invitae Corp filed Critical Invitae Corp
Publication of MX2020003709A publication Critical patent/MX2020003709A/es

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)
  • Bioethics (AREA)
  • Analytical Chemistry (AREA)
  • Chemical & Material Sciences (AREA)
  • Molecular Biology (AREA)
  • Computer Networks & Wireless Communication (AREA)
  • Signal Processing (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)
  • 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)
MX2020003709A 2017-10-17 2018-10-17 Plataforma de evidencia molecular para la optimización continua, auditable de la interpretación de variantes en pruebas y análisis genéticos y genómicos. MX2020003709A (es)

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
MX2020003709A true MX2020003709A (es) 2020-07-22

Family

ID=66174641

Family Applications (1)

Application Number Title Priority Date Filing Date
MX2020003709A MX2020003709A (es) 2017-10-17 2018-10-17 Plataforma de evidencia molecular para la optimización continua, auditable de la interpretación de variantes en pruebas y análisis genéticos y genómicos.

Country Status (10)

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

Families Citing this family (13)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP7258871B2 (ja) 2017-10-17 2023-04-17 インビタエ コーポレイション 遺伝子及びゲノムの検査並びに分析におけるバリアント解釈の、監査可能な継続的な最適化のための分子エビデンスプラットフォーム
US10959277B2 (en) * 2019-04-01 2021-03-23 T-Mobile Usa, Inc. Mobile device network performance restoration and improvement
US10764062B2 (en) * 2019-06-03 2020-09-01 Alibaba Group Holding Limited Blockchain ledger compression
CN110602162B (zh) * 2019-08-06 2022-11-01 苏州龙信信息科技有限公司 终端取证方法、装置、设备和存储介质
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
WO2022198625A1 (zh) * 2021-03-26 2022-09-29 深圳华大基因股份有限公司 变异文献解读知识库的构建方法、解读方法及电子设备
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

Family Cites Families (32)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5972693A (en) 1995-10-24 1999-10-26 Curagen Corporation Apparatus for identifying, classifying, or quantifying DNA sequences in a sample without sequencing
US6949692B2 (en) 1996-11-18 2005-09-27 Wisconsin Alumni Research Foundation Method for identifying mutants and molecules
US5780236A (en) 1996-11-18 1998-07-14 Wisconsin Alumni Research Foundation Method for identifying mutants and molecules
US7135286B2 (en) 2002-03-26 2006-11-14 Perlegen Sciences, Inc. Pharmaceutical and diagnostic business systems and methods
US20060223058A1 (en) * 2005-04-01 2006-10-05 Perlegen Sciences, Inc. In vitro association studies
US7702468B2 (en) 2006-05-03 2010-04-20 Population Diagnostics, Inc. Evaluating genetic disorders
EP2064345B1 (en) 2006-09-11 2013-03-13 Celera Corporation Genetic polymorphisms associated with psoriasis, methods of detection and uses thereof
KR101325736B1 (ko) * 2010-10-27 2013-11-08 삼성에스디에스 주식회사 바이오 마커 추출 장치 및 방법
WO2012066582A1 (en) 2010-11-18 2012-05-24 Decode Genetics Ehf Genetic risk factors of sick sinus syndrome
US8744982B2 (en) * 2011-05-12 2014-06-03 University Of Utah Research Foundation Gene-specific prediction
US8718950B2 (en) * 2011-07-08 2014-05-06 The Medical College Of Wisconsin, Inc. Methods and apparatus for identification of disease associated mutations
US9773091B2 (en) * 2011-10-31 2017-09-26 The Scripps Research Institute Systems and methods for genomic annotation and distributed variant interpretation
US9235686B2 (en) 2012-01-06 2016-01-12 Molecular Health Gmbh Systems and methods for using adverse event data to predict potential side effects
US20140089009A1 (en) * 2012-09-27 2014-03-27 Wobblebase, Inc. Method for Personal Genome Data Management
US9792405B2 (en) 2013-01-17 2017-10-17 Edico Genome, Corp. Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform
EP4414988A3 (en) * 2013-01-31 2024-11-06 Codexis, Inc. Methods, systems, and software for identifying bio-molecules using models of multiplicative form
WO2014149972A1 (en) * 2013-03-15 2014-09-25 The Scripps Research Institute Systems and methods for genomic annotation and distributed variant interpretation
US20160048633A1 (en) * 2013-03-15 2016-02-18 Cypher Genomics, Inc. Systems and methods for genomic variant annotation
WO2014151764A2 (en) * 2013-03-15 2014-09-25 Veracyte, Inc. Methods and compositions for classification of samples
JP6566484B2 (ja) * 2013-06-14 2019-08-28 キージーン ナムローゼ フェンノートシャップ 表現形質改善のための制御された戦略
US20150025861A1 (en) * 2013-07-17 2015-01-22 The Johns Hopkins University Genetic screening computing systems and methods
WO2015027085A1 (en) * 2013-08-22 2015-02-26 Genomoncology, Llc Computer-based systems and methods for analyzing genomes based on discrete data structures corresponding to genetic variants therein
US20160314245A1 (en) 2014-06-17 2016-10-27 Genepeeks, Inc. Device, system and method for assessing risk of variant-specific gene dysfunction
JP2017527050A (ja) * 2014-06-30 2017-09-14 キアゲン レッドウッド シティ， インコーポレイテッドＱｉａｇｅｎ Ｒｅｄｗｏｏｄ Ｃｉｔｙ， Ｉｎｃ． 配列に基づいた遺伝子検査の解釈および報告のための方法およびシステム
KR102068451B1 (ko) 2014-09-03 2020-01-20 난트헬쓰, 인코포레이티드 합성 게놈 변형-기반의 보안 트랜잭션 디바이스들, 시스템들 및 방법들
CA2980327A1 (en) * 2015-03-26 2016-09-29 Quest Diagnostics Investments Incorporated Alignment and variant sequencing analysis pipeline
EP3286677A4 (en) * 2015-04-22 2019-07-24 Genepeeks, Inc. DEVICE, SYSTEM AND METHOD FOR ASSESSING THE RISK OF VARIATION SPECIFIC GENDYS FUNCTION
US10185803B2 (en) * 2015-06-15 2019-01-22 Deep Genomics Incorporated Systems and methods for classifying, prioritizing and interpreting genetic variants and therapies using a deep neural network
CA3018705A1 (en) 2016-03-21 2017-09-28 Human Longevity, Inc. Genomic, metabolomic, and microbiomic search engine
JP7258871B2 (ja) 2017-10-17 2023-04-17 インビタエ コーポレイション 遺伝子及びゲノムの検査並びに分析におけるバリアント解釈の、監査可能な継続的な最適化のための分子エビデンスプラットフォーム
US10978196B2 (en) * 2018-10-17 2021-04-13 Tempus Labs, Inc. Data-based mental disorder research and treatment systems and methods
US20200121715A1 (en) 2018-10-20 2020-04-23 MC Technology Holdings, LLC Composition comprising aqueous medium with reduced size water clusters to improve bioavailability of the aqueous medium and methods for making and using the compositions

Also Published As

Publication number Publication date
WO2019079464A1 (en) 2019-04-25
US11462299B2 (en) 2022-10-04
US12136472B2 (en) 2024-11-05
EP3701534B1 (en) 2024-04-10
AU2018350975B2 (en) 2023-11-23
AU2018350975A1 (en) 2020-05-07
CN112074909A (zh) 2020-12-11
EP3701534C0 (en) 2024-04-10
CA3079389A1 (en) 2019-04-25
JP2020537795A (ja) 2020-12-24
BR112020007449A2 (pt) 2020-10-20
US20200251179A1 (en) 2020-08-06
CN112074909B (zh) 2024-03-19
IL274001A (en) 2020-05-31
US20240006021A1 (en) 2024-01-04
US20190189246A1 (en) 2019-06-20
JP7258871B2 (ja) 2023-04-17
EP3701534A4 (en) 2021-08-04
US11798651B2 (en) 2023-10-24
EP3701534A1 (en) 2020-09-02
US20230117854A1 (en) 2023-04-20

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