JP6682439B2 - 病態判定支援装置、方法、プログラムおよび記録媒体 - Google Patents
病態判定支援装置、方法、プログラムおよび記録媒体 Download PDFInfo
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- JP6682439B2 JP6682439B2 JP2016546243A JP2016546243A JP6682439B2 JP 6682439 B2 JP6682439 B2 JP 6682439B2 JP 2016546243 A JP2016546243 A JP 2016546243A JP 2016546243 A JP2016546243 A JP 2016546243A JP 6682439 B2 JP6682439 B2 JP 6682439B2
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- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
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- G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics
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- G06F—ELECTRIC DIGITAL DATA PROCESSING
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- G06F16/20—Information retrieval; Database structures therefor; File system structures therefor of structured data, e.g. relational data
- G06F16/24—Querying
- G06F16/245—Query processing
- G06F16/2458—Special types of queries, e.g. statistical queries, fuzzy queries or distributed queries
- G06F16/2465—Query processing support for facilitating data mining operations in structured databases
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Description
1)遺伝子変異の情報
2)内部データベース
3)病態判定支援装置の動作
2 インターネット
3 公共データベース
10 CPU
11 メモリ
12 記録部
12a 内部データベース
13 バス
14 インタフェース部
21 抽出部(抽出手段)
22 取得部(取得手段)
23 一覧表示部(一覧表示手段)
Claims (8)
- 多発性嚢胞腎の病態の判定を支援する病態判定支援装置であって、
被験者の遺伝子配列を記載したシークエンスデータから、多発性嚢胞腎に関連する範囲の遺伝子変異の情報を抽出する抽出手段と、
前記抽出した前記遺伝子変異の情報を用いて、遺伝子変異と医学的な情報とを対応付けた複数のデータベースから、前記抽出した前記遺伝子変異に対応する医学的な情報を取得する取得手段と、
前記抽出した前記遺伝子変異の情報と、前記取得した前記医学的な情報とを一覧で表示する一覧表示手段と、
を有し、
前記データベースが、腎嚢胞を有しない者に観察される遺伝子変異のデータベースを含み、
前記一覧で表示する情報が、前記腎嚢胞を有しない者の所定の人数中何人に前記抽出した前記遺伝子変異が存在したのかの情報を含む、病態判定支援装置。 - 前記データベースを記録した記録部を有する請求項1に記載の病態判定支援装置。
- 前記遺伝子変異の情報が、染色体の位置情報を基準とした情報であり、
染色体の番号と、変異の位置と、変異後の塩基の種類とを含む、請求項1または2に記載の病態判定支援装置。 - 前記データベースが、偽遺伝子配列データベースをさらに含む、請求項1〜3のいずれかに記載の病態判定支援装置。
- 多発性嚢胞腎の病態の判定を支援する病態判定支援方法であって、
被験者の遺伝子配列を記載したシークエンスデータから、多発性嚢胞腎に関連する範囲の遺伝子変異の情報を抽出する抽出ステップと、
前記抽出した前記遺伝子変異の情報を用いて、遺伝子変異と医学的な情報とを対応付けた複数のデータベースから、前記抽出した前記遺伝子変異に対応する医学的な情報を取得する取得ステップと、
前記抽出した前記遺伝子変異の情報と、前記取得した前記医学的な情報とを一覧で表示する一覧表示ステップと、
を含み、
前記データベースが、腎嚢胞を有しない者に観察される遺伝子変異のデータベースを含み、
前記一覧で表示する情報が、前記腎嚢胞を有しない者の所定の人数中何人に前記抽出した前記遺伝子変異が存在したのかの情報を含む、病態判定支援方法。 - 前記データベースが、偽遺伝子配列データベースをさらに含む、請求項5に記載の病態判定支援方法。
- 請求項1〜4のいずれかに記載の病態判定支援装置の前記抽出手段、前記取得手段、および前記一覧表示手段として、コンピュータを機能させるプログラム。
- 請求項7に記載のプログラムを記録した、コンピュータ読み取り可能な記録媒体。
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PCT/JP2014/073213 WO2016035168A1 (ja) | 2014-09-03 | 2014-09-03 | 病態判定支援装置、方法、プログラムおよび記録媒体 |
Publications (2)
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JPWO2016035168A1 JPWO2016035168A1 (ja) | 2017-06-29 |
JP6682439B2 true JP6682439B2 (ja) | 2020-04-15 |
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US (1) | US20180032673A1 (ja) |
EP (1) | EP3219809B1 (ja) |
JP (1) | JP6682439B2 (ja) |
CA (1) | CA2974182A1 (ja) |
ES (1) | ES2898435T3 (ja) |
WO (1) | WO2016035168A1 (ja) |
Families Citing this family (4)
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CN109243534A (zh) * | 2018-08-31 | 2019-01-18 | 郑州金域临床检验中心有限公司 | 基于ngs的突变基因的分析装置、设备及存储介质 |
CN109859847A (zh) * | 2019-02-15 | 2019-06-07 | 京东方科技集团股份有限公司 | 电子设备、体重管理收益预测装置及存储介质 |
JP6777351B2 (ja) * | 2020-05-28 | 2020-10-28 | 株式会社テンクー | プログラム、情報処理装置および情報処理方法 |
EP4191594A4 (en) * | 2020-07-28 | 2024-04-10 | XCOO Inc. | PROGRAM, LEARNING MODEL, INFORMATION PROCESSING DEVICE AND METHOD, AND LEARNING MODEL GENERATION METHOD |
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US6303297B1 (en) * | 1992-07-17 | 2001-10-16 | Incyte Pharmaceuticals, Inc. | Database for storage and analysis of full-length sequences |
WO2002006529A2 (en) * | 2000-07-13 | 2002-01-24 | The Johns Hopkins University School Of Medicine | Detection and treatment of polycystic kidney disease |
JP2006254739A (ja) * | 2005-03-15 | 2006-09-28 | Univ Of Tokushima | 糖尿病疾患感受性遺伝子、及び糖尿病罹患の難易を検出する方法 |
EP2069990B1 (en) * | 2006-09-20 | 2019-03-13 | Koninklijke Philips N.V. | A molecular diagnostics decision support system |
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CA2701411A1 (en) * | 2007-10-16 | 2009-04-23 | F. Hoffmann-La Roche Ag | High resolution, high throughput hla genotyping by clonal sequencing |
JP5807894B2 (ja) * | 2011-01-31 | 2015-11-10 | 国立研究開発法人理化学研究所 | 一塩基多型に基づく前立腺癌の検査方法 |
US9218450B2 (en) * | 2012-11-29 | 2015-12-22 | Roche Molecular Systems, Inc. | Accurate and fast mapping of reads to genome |
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- 2014-09-03 CA CA2974182A patent/CA2974182A1/en active Pending
- 2014-09-03 WO PCT/JP2014/073213 patent/WO2016035168A1/ja active Application Filing
- 2014-09-03 EP EP14901111.6A patent/EP3219809B1/en active Active
- 2014-09-03 US US15/535,288 patent/US20180032673A1/en not_active Abandoned
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Publication number | Publication date |
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US20180032673A1 (en) | 2018-02-01 |
WO2016035168A1 (ja) | 2016-03-10 |
CA2974182A1 (en) | 2016-03-10 |
EP3219809A4 (en) | 2018-05-30 |
EP3219809B1 (en) | 2021-10-27 |
EP3219809A1 (en) | 2017-09-20 |
ES2898435T3 (es) | 2022-03-07 |
JPWO2016035168A1 (ja) | 2017-06-29 |
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