JP2023534616A - 変異体病原性スコアリング及び分類、並びにそれらの使用 - Google Patents

変異体病原性スコアリング及び分類、並びにそれらの使用 Download PDF

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JP2023534616A
JP2023534616A JP2022578715A JP2022578715A JP2023534616A JP 2023534616 A JP2023534616 A JP 2023534616A JP 2022578715 A JP2022578715 A JP 2022578715A JP 2022578715 A JP2022578715 A JP 2022578715A JP 2023534616 A JP2023534616 A JP 2023534616A
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pathogenicity
gene
variant
score
threshold
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ホン・ガオ
カイ－ハウ・ファー
ジェレミー・フランシス・マクレー
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イルミナ インコーポレイテッド
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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
    • 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
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    • G06F16/284—Relational databases
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    • G—PHYSICS
    • G06—COMPUTING OR CALCULATING; COUNTING
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    • 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
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JP2022578715A 2020-07-23 2021-07-21 変異体病原性スコアリング及び分類、並びにそれらの使用 Pending JP2023534616A (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US202063055724P 2020-07-23 2020-07-23
US63/055,724 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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JP2023534616A true JP2023534616A (ja) 2023-08-10
JP2023534616A5 JP2023534616A5 (https=) 2024-07-30

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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 (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20190249258A1 (en) * 2016-05-16 2019-08-15 Dimo Dietrich Method for assessing a prognosis and predicting the response of patients with malignant diseases to immunotherapy
US20200065675A1 (en) * 2017-10-16 2020-02-27 Illumina, Inc. Deep Convolutional Neural Networks for Variant Classification
US20200097835A1 (en) * 2014-06-17 2020-03-26 Ancestry.Com Dna, Llc Device, system and method for assessing risk of variant-specific gene dysfunction

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20200097835A1 (en) * 2014-06-17 2020-03-26 Ancestry.Com Dna, Llc Device, system and method for assessing risk of variant-specific gene dysfunction
US20190249258A1 (en) * 2016-05-16 2019-08-15 Dimo Dietrich Method for assessing a prognosis and predicting the response of patients with malignant diseases to immunotherapy
US20200065675A1 (en) * 2017-10-16 2020-02-27 Illumina, Inc. Deep Convolutional Neural Networks for Variant Classification

Non-Patent Citations (3)

* Cited by examiner, † Cited by third party
Title
K. JOERI VAN DER VELDE ET AL.: "GAVIN: Gene-Aware Variant INterpretation for medical sequencing", GENOME BIOLOGY, vol. 18, no. 6, JPN6025038352, 2017, pages 1 - 10, ISSN: 0005828477 *
LAKSSHMAN SUNDARAM ET AL.: "Predicting the clinical impact of human mutation with deep neural networks", NAT GENET. (AUTHOR MANUSCRIPT), JPN6025038355, 23 January 2019 (2019-01-23), pages 1 - 29, ISSN: 0005828476 *
STEVEN FLYGARE ET AL.: "The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool", BMC BIOINFORMATICS, vol. 19, no. 57, JPN6025038353, 2018, pages 1 - 13, ISSN: 0005828478 *

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CN115715415A (zh) 2023-02-24
US20220027388A1 (en) 2022-01-27
WO2022020487A1 (en) 2022-01-27
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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