CN115715415A - 变体致病性评分和分类及其用途 - Google Patents

变体致病性评分和分类及其用途 Download PDF

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CN115715415A
CN115715415A CN202180043774.0A CN202180043774A CN115715415A CN 115715415 A CN115715415 A CN 115715415A CN 202180043774 A CN202180043774 A CN 202180043774A CN 115715415 A CN115715415 A CN 115715415A
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pathogenicity
gene
variant
threshold
specific
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H·高
K-H·法尔
J·F·麦克雷
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Inmair Ltd
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Inmair Ltd
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    • 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
    • G16B40/20—Supervised data analysis
    • G—PHYSICS
    • G06—COMPUTING OR CALCULATING; COUNTING
    • G06F—ELECTRIC DIGITAL DATA PROCESSING
    • G06F16/00—Information retrieval; Database structures therefor; File system structures therefor
    • G06F16/20—Information retrieval; Database structures therefor; File system structures therefor of structured data, e.g. relational data
    • G06F16/28—Databases characterised by their database models, e.g. relational or object models
    • G06F16/284—Relational databases
    • G06F16/285—Clustering or classification
    • G—PHYSICS
    • G06—COMPUTING OR CALCULATING; COUNTING
    • G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
    • G06N3/00—Computing arrangements based on biological models
    • G06N3/02—Neural networks
    • G—PHYSICS
    • G06—COMPUTING OR CALCULATING; COUNTING
    • G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
    • G06N3/00—Computing arrangements based on biological models
    • G06N3/02—Neural networks
    • G06N3/04—Architecture, e.g. interconnection topology
    • G06N3/044—Recurrent networks, e.g. Hopfield networks
    • G—PHYSICS
    • G06—COMPUTING OR CALCULATING; COUNTING
    • G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
    • G06N3/00—Computing arrangements based on biological models
    • G06N3/02—Neural networks
    • G06N3/04—Architecture, e.g. interconnection topology
    • G06N3/0464—Convolutional networks [CNN, ConvNet]
    • 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
    • Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y02—TECHNOLOGIES OR APPLICATIONS FOR MITIGATION OR ADAPTATION AGAINST CLIMATE CHANGE
    • Y02A—TECHNOLOGIES FOR ADAPTATION TO CLIMATE CHANGE
    • Y02A90/00—Technologies having an indirect contribution to adaptation to climate change
    • Y02A90/10—Information and communication technologies [ICT] supporting adaptation to climate change, e.g. for weather forecasting or climate simulation

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  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Theoretical Computer Science (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Data Mining & Analysis (AREA)
  • Databases & Information Systems (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Medical Informatics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Biotechnology (AREA)
  • Artificial Intelligence (AREA)
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  • Proteomics, Peptides & Aminoacids (AREA)
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  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Medical Treatment And Welfare Office Work (AREA)
CN202180043774.0A 2020-07-23 2021-07-21 变体致病性评分和分类及其用途 Pending CN115715415A (zh)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US202063055724P 2020-07-23 2020-07-23
US63/055724 2020-07-23
PCT/US2021/042599 WO2022020487A1 (en) 2020-07-23 2021-07-21 Variant pathogenicity scoring and classification and uses thereof

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CN115715415A true CN115715415A (zh) 2023-02-24

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US (1) US20220027388A1 (https=)
EP (1) EP4186061A1 (https=)
JP (1) JP2023534616A (https=)
KR (1) KR20230043072A (https=)
CN (1) CN115715415A (https=)
AU (1) AU2021313211A1 (https=)
CA (1) CA3184399A1 (https=)
IL (1) IL299070A (https=)
WO (1) WO2022020487A1 (https=)

Families Citing this family (3)

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Publication number Priority date Publication date Assignee Title
EP4036798A1 (de) * 2021-01-27 2022-08-03 Siemens Healthcare GmbH Computer-implementiertes verfahrens zur automatischen klassifikation von emitter-strukturen, vorrichtung zur durchführung des verfahrens, maschinenlesbarer programmcode und speichermedium
EP4612692A1 (en) * 2022-11-01 2025-09-10 Laboratory Corporation of America Holdings Population frequency modeling for quantitative variant pathogenicity estimation
EP4732284A1 (en) 2023-06-23 2026-04-29 Illumina, Inc. Method and system for estimating impact of mutations on fitness, lifespan, and fecundity

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN110800062A (zh) * 2017-10-16 2020-02-14 因美纳有限公司 用于变体分类的深度卷积神经网络

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US20200097835A1 (en) * 2014-06-17 2020-03-26 Ancestry.Com Dna, Llc Device, system and method for assessing risk of variant-specific gene dysfunction
DE102016005947B3 (de) * 2016-05-16 2017-06-08 Dimo Dietrich Verfahren zur Abschätzung der Prognose und zur Prädiktion des Ansprechens auf eine Immuntherapie von Patienten mit malignen Erkrankungen

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN110800062A (zh) * 2017-10-16 2020-02-14 因美纳有限公司 用于变体分类的深度卷积神经网络

Non-Patent Citations (3)

* Cited by examiner, † Cited by third party
Title
LAKSSHMAN SUNDARAM等: "Predicting the clinical impact of human mutation with deep neural networks", NATURE GENETICS, vol. 50, 23 July 2018 (2018-07-23), pages 1164 *
STEVEN FLYGARE等: "The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool", BMC BIOINFORMATICS, vol. 19, 20 February 2018 (2018-02-20), pages 1 *
VAN DER VELDE等: "GAVIN: Gene-Aware Variant INterpretation for medical sequencing", GENOME BIOLOGY, vol. 18, 16 January 2017 (2017-01-16), pages 1 *

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US20220027388A1 (en) 2022-01-27
WO2022020487A1 (en) 2022-01-27
JP2023534616A (ja) 2023-08-10
EP4186061A1 (en) 2023-05-31
CA3184399A1 (en) 2022-01-27
AU2021313211A1 (en) 2022-12-01
KR20230043072A (ko) 2023-03-30
IL299070A (en) 2023-02-01

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