HK1219789A1 - 用於疾病關聯的人類基因組變異分析和報告的系統及方法 - Google Patents

用於疾病關聯的人類基因組變異分析和報告的系統及方法

Info

Publication number
HK1219789A1
HK1219789A1 HK16107666.0A HK16107666A HK1219789A1 HK 1219789 A1 HK1219789 A1 HK 1219789A1 HK 16107666 A HK16107666 A HK 16107666A HK 1219789 A1 HK1219789 A1 HK 1219789A1
Authority
HK
Hong Kong
Prior art keywords
reporting
systems
methods
disease associated
human genomic
Prior art date
Application number
HK16107666.0A
Other languages
English (en)
Inventor
陳帆青
吳涵
Original Assignee
Unimed Biotech (Shanghai) Co Ltd
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 Unimed Biotech (Shanghai) Co Ltd filed Critical Unimed Biotech (Shanghai) Co Ltd
Publication of HK1219789A1 publication Critical patent/HK1219789A1/zh

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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
    • 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
    • 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
    • G16B50/30—Data warehousing; Computing architectures

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  • Engineering & Computer Science (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Theoretical Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Evolutionary Biology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Chemical & Material Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Molecular Biology (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Bioethics (AREA)
  • Databases & Information Systems (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Organic Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
HK16107666.0A 2013-03-15 2016-07-01 用於疾病關聯的人類基因組變異分析和報告的系統及方法 HK1219789A1 (zh)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201361792522P 2013-03-15 2013-03-15
US14/161,981 US20140278133A1 (en) 2013-03-15 2014-01-23 Systems and methods for disease associated human genomic variant analysis and reporting
PCT/US2014/018424 WO2014149437A1 (en) 2013-03-15 2014-02-25 Systems and methods for disease associated human genomic variant analysis and reporting

Publications (1)

Publication Number Publication Date
HK1219789A1 true HK1219789A1 (zh) 2017-04-13

Family

ID=51531642

Family Applications (1)

Application Number Title Priority Date Filing Date
HK16107666.0A HK1219789A1 (zh) 2013-03-15 2016-07-01 用於疾病關聯的人類基因組變異分析和報告的系統及方法

Country Status (10)

Country Link
US (1) US20140278133A1 (zh)
EP (1) EP2973121A4 (zh)
JP (2) JP6231654B2 (zh)
KR (1) KR20160008520A (zh)
CN (1) CN105229649B (zh)
AU (1) AU2014238160A1 (zh)
CA (1) CA2900551A1 (zh)
HK (1) HK1219789A1 (zh)
MX (1) MX2015011901A (zh)
WO (1) WO2014149437A1 (zh)

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JP6675164B2 (ja) * 2015-07-28 2020-04-01 株式会社理研ジェネシス 変異判定方法、変異判定プログラムおよび記録媒体
US20200176085A1 (en) * 2016-01-18 2020-06-04 Julian GOUGH Determining phenotype from genotype
NZ745249A (en) 2016-02-12 2021-07-30 Regeneron Pharma Methods and systems for detection of abnormal karyotypes
JP2019515369A (ja) * 2016-03-29 2019-06-06 リジェネロン・ファーマシューティカルズ・インコーポレイテッドＲｅｇｅｎｅｒｏｎ Ｐｈａｒｍａｃｅｕｔｉｃａｌｓ， Ｉｎｃ． 遺伝的バリアント−表現型解析システムおよび使用方法
CN105956417A (zh) * 2016-05-04 2016-09-21 西安电子科技大学 云环境下基于编辑距离的相似碱基序列查询方法
CN106021981A (zh) * 2016-05-13 2016-10-12 万康源(天津)基因科技有限公司 一种基于功能网络多疾病变异位点分析平台
CN106021982A (zh) * 2016-05-13 2016-10-12 万康源(天津)基因科技有限公司 一种基于功能网络多疾病变异位点分析方法
US20170351807A1 (en) * 2016-06-01 2017-12-07 Life Technologies Corporation Methods and systems for designing gene panels
CN106227992A (zh) * 2016-07-13 2016-12-14 为朔医学数据科技（北京）有限公司 一种治疗方案的推荐方法及系统
CN106202936A (zh) * 2016-07-13 2016-12-07 为朔医学数据科技（北京）有限公司 一种疾病风险预测方法及系统
US10409791B2 (en) * 2016-08-05 2019-09-10 Intertrust Technologies Corporation Data communication and storage systems and methods
CN106446598A (zh) * 2016-11-15 2017-02-22 上海派森诺生物科技股份有限公司 项目报告自动生成方法
CN107103207B (zh) * 2017-04-05 2020-07-03 浙江大学 基于病例多组学变异特征的精准医学知识搜索系统及实现方法
CN106960133B (zh) * 2017-05-24 2020-08-11 为朔医学数据科技（北京）有限公司 一种疾病预测方法及装置
CN110021364B (zh) * 2017-11-24 2023-07-28 上海暖闻信息科技有限公司 基于病人临床症状数据和全外显子组测序数据筛选单基因遗传病致病基因的分析检测系统
JP7074861B2 (ja) * 2018-01-10 2022-05-24 メモリアル スローン ケタリング キャンサー センター 生ゲノムデータに基づく構成可能テキスト文字列の生成
JP6737519B1 (ja) * 2019-03-07 2020-08-12 株式会社テンクー プログラム、学習モデル、情報処理装置、情報処理方法および学習モデルの生成方法
CN110164504B (zh) * 2019-05-27 2021-04-02 复旦大学附属儿科医院 二代测序数据的处理方法、装置及电子设备
JP6953586B2 (ja) * 2019-06-19 2021-10-27 シスメックス株式会社 患者検体の核酸配列の解析方法、解析結果の提示方法、提示装置、提示プログラム、及び患者検体の核酸配列の解析システム
CN110660055B (zh) * 2019-09-25 2022-11-29 北京青燕祥云科技有限公司 疾病数据预测方法、装置、可读存储介质及电子设备
KR102345994B1 (ko) * 2020-01-22 2022-01-03 가톨릭대학교 산학협력단 Ngs 분석에서의 질병 관련 유전자 선별 방법 및 장치
CN111597161A (zh) * 2020-05-27 2020-08-28 北京诺禾致源科技股份有限公司 信息处理系统、信息处理方法及装置
EP4191594A4 (en) * 2020-07-28 2024-04-10 XCOO Inc. PROGRAM, LEARNING MODEL, INFORMATION PROCESSING DEVICE AND METHOD, AND LEARNING MODEL GENERATION METHOD
KR102476603B1 (ko) * 2020-11-30 2022-12-13 이건우 인공지능 기반 자기개선 게놈 시퀀싱을 통한 유전자 진단 시스템
CN114093421B (zh) * 2021-11-23 2022-08-23 深圳吉因加信息科技有限公司 一种判别淋巴瘤分子亚型的方法、装置和存储介质
TWI823203B (zh) * 2021-12-03 2023-11-21 臺中榮民總醫院 自動化多基因輔助診斷自體免疫疾病之方法

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Also Published As

Publication number Publication date
WO2014149437A1 (en) 2014-09-25
EP2973121A1 (en) 2016-01-20
MX2015011901A (es) 2016-05-16
CN105229649A (zh) 2016-01-06
JP6231654B2 (ja) 2017-11-15
CA2900551A1 (en) 2014-09-25
JP2018037093A (ja) 2018-03-08
JP2016516237A (ja) 2016-06-02
AU2014238160A1 (en) 2015-09-17
KR20160008520A (ko) 2016-01-22
EP2973121A4 (en) 2016-11-16
CN105229649B (zh) 2018-04-13
US20140278133A1 (en) 2014-09-18

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