JP2023534616A5 - - Google Patents

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Publication number
JP2023534616A5
JP2023534616A5 JP2022578715A JP2022578715A JP2023534616A5 JP 2023534616 A5 JP2023534616 A5 JP 2023534616A5 JP 2022578715 A JP2022578715 A JP 2022578715A JP 2022578715 A JP2022578715 A JP 2022578715A JP 2023534616 A5 JP2023534616 A5 JP 2023534616A5
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JP
Japan
Prior art keywords
gene
pathogenicity
threshold
specific
interest
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Pending
Application number
JP2022578715A
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English (en)
Japanese (ja)
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JP2023534616A (ja
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Priority claimed from PCT/US2021/042599 external-priority patent/WO2022020487A1/en
Publication of JP2023534616A publication Critical patent/JP2023534616A/ja
Publication of JP2023534616A5 publication Critical patent/JP2023534616A5/ja
Pending legal-status Critical Current

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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

Publications (2)

Publication Number Publication Date
JP2023534616A JP2023534616A (ja) 2023-08-10
JP2023534616A5 true JP2023534616A5 (https=) 2024-07-30

Family

ID=77265352

Family Applications (1)

Application Number Title Priority Date Filing Date
JP2022578715A Pending JP2023534616A (ja) 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

Country Status (9)

Country Link
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)

* Cited by examiner, † Cited by third party
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

Family Cites Families (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
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
CN110832596B (zh) * 2017-10-16 2021-03-26 因美纳有限公司 基于深度学习的深度卷积神经网络训练方法

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