JP2014508994A5 - - Google Patents

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JP2014508994A5
JP2014508994A5 JP2013549922A JP2013549922A JP2014508994A5 JP 2014508994 A5 JP2014508994 A5 JP 2014508994A5 JP 2013549922 A JP2013549922 A JP 2013549922A JP 2013549922 A JP2013549922 A JP 2013549922A JP 2014508994 A5 JP2014508994 A5 JP 2014508994A5
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disease
genomic sequence
genomic
gene
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JP2013549922A
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JP2014508994A (ja
JP6420543B2 (ja
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Priority claimed from PCT/IB2012/050255 external-priority patent/WO2012098515A1/en
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JP2013549922A 2011-01-19 2012-01-19 ゲノムデータ処理方法 Expired - Fee Related JP6420543B2 (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201161434017P 2011-01-19 2011-01-19
US61/434,017 2011-01-19
PCT/IB2012/050255 WO2012098515A1 (en) 2011-01-19 2012-01-19 Method for processing genomic data

Publications (3)

Publication Number Publication Date
JP2014508994A JP2014508994A (ja) 2014-04-10
JP2014508994A5 true JP2014508994A5 (https=) 2015-08-20
JP6420543B2 JP6420543B2 (ja) 2018-11-07

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JP2013549922A Expired - Fee Related JP6420543B2 (ja) 2011-01-19 2012-01-19 ゲノムデータ処理方法

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US (1) US20140229495A1 (https=)
EP (1) EP2666115A1 (https=)
JP (1) JP6420543B2 (https=)
CN (2) CN111192634A (https=)
BR (1) BR112013018139A8 (https=)
RU (1) RU2013138422A (https=)
WO (1) WO2012098515A1 (https=)

Families Citing this family (62)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US9773091B2 (en) 2011-10-31 2017-09-26 The Scripps Research Institute Systems and methods for genomic annotation and distributed variant interpretation
CN102841988B (zh) * 2012-07-28 2015-10-21 盛司潼 一种对核酸序列信息进行匹配的系统和方法
US9418203B2 (en) 2013-03-15 2016-08-16 Cypher Genomics, Inc. Systems and methods for genomic variant annotation
WO2014149972A1 (en) 2013-03-15 2014-09-25 The Scripps Research Institute Systems and methods for genomic annotation and distributed variant interpretation
US11342048B2 (en) 2013-03-15 2022-05-24 The Scripps Research Institute Systems and methods for genomic annotation and distributed variant interpretation
US9898575B2 (en) 2013-08-21 2018-02-20 Seven Bridges Genomics Inc. Methods and systems for aligning sequences
US9116866B2 (en) 2013-08-21 2015-08-25 Seven Bridges Genomics Inc. Methods and systems for detecting sequence variants
WO2015027085A1 (en) 2013-08-22 2015-02-26 Genomoncology, Llc Computer-based systems and methods for analyzing genomes based on discrete data structures corresponding to genetic variants therein
HK1226158A1 (zh) * 2013-09-30 2017-09-22 Seven Bridges Genomics Inc. 用於检测序列变异体的方法和系统
EP3495496B1 (en) 2013-10-07 2020-11-25 Sequenom, Inc. Methods and processes for non-invasive assessment of chromosome alterations
US20150106115A1 (en) * 2013-10-10 2015-04-16 International Business Machines Corporation Densification of longitudinal emr for improved phenotyping
AU2014337093B2 (en) 2013-10-18 2020-07-30 Seven Bridges Genomics Inc. Methods and systems for identifying disease-induced mutations
JP2017500004A (ja) 2013-10-18 2017-01-05 セブン ブリッジズ ジェノミクス インコーポレイテッド 遺伝子試料について遺伝子型解析するための方法およびシステム
WO2015058095A1 (en) 2013-10-18 2015-04-23 Seven Bridges Genomics Inc. Methods and systems for quantifying sequence alignment
US11049587B2 (en) 2013-10-18 2021-06-29 Seven Bridges Genomics Inc. Methods and systems for aligning sequences in the presence of repeating elements
US9063914B2 (en) 2013-10-21 2015-06-23 Seven Bridges Genomics Inc. Systems and methods for transcriptome analysis
EP3069285A4 (en) * 2013-11-13 2017-08-30 Five3 Genomics, LLC Systems and methods for transmission and pre-processing of sequencing data
EP3092317B1 (en) 2014-01-10 2021-04-21 Seven Bridges Genomics Inc. Systems and methods for use of known alleles in read mapping
US9817944B2 (en) 2014-02-11 2017-11-14 Seven Bridges Genomics Inc. Systems and methods for analyzing sequence data
CN106537400B (zh) * 2014-02-26 2019-04-09 南托米克斯公司 安全的移动基因组浏览设备及用于其的方法
AU2015311677A1 (en) * 2014-09-05 2017-04-27 Nantomics, Llc Systems and methods for determination of provenance
CA2964349C (en) 2014-10-14 2023-03-21 Seven Bridges Genomics Inc. Systems and methods for smart tools in sequence pipelines
US10192026B2 (en) 2015-03-05 2019-01-29 Seven Bridges Genomics Inc. Systems and methods for genomic pattern analysis
US10395759B2 (en) 2015-05-18 2019-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for copy number variant detection
US10275567B2 (en) 2015-05-22 2019-04-30 Seven Bridges Genomics Inc. Systems and methods for haplotyping
SG11201707649SA (en) * 2015-06-24 2017-10-30 Samsung Life Public Welfare Foundation Method and device for analyzing gene
WO2017009402A1 (en) * 2015-07-16 2017-01-19 Koninklijke Philips N.V. Device, system and method for managing treatment of an inflammatory autoimmune disease of a person
US10793895B2 (en) 2015-08-24 2020-10-06 Seven Bridges Genomics Inc. Systems and methods for epigenetic analysis
US10584380B2 (en) 2015-09-01 2020-03-10 Seven Bridges Genomics Inc. Systems and methods for mitochondrial analysis
US10724110B2 (en) 2015-09-01 2020-07-28 Seven Bridges Genomics Inc. Systems and methods for analyzing viral nucleic acids
US11347704B2 (en) 2015-10-16 2022-05-31 Seven Bridges Genomics Inc. Biological graph or sequence serialization
US20170199960A1 (en) 2016-01-07 2017-07-13 Seven Bridges Genomics Inc. Systems and methods for adaptive local alignment for graph genomes
US10364468B2 (en) 2016-01-13 2019-07-30 Seven Bridges Genomics Inc. Systems and methods for analyzing circulating tumor DNA
US10460829B2 (en) 2016-01-26 2019-10-29 Seven Bridges Genomics Inc. Systems and methods for encoding genetic variation for a population
CA3014292A1 (en) 2016-02-12 2017-08-17 Regeneron Pharmaceuticals, Inc. Methods and systems for detection of abnormal karyotypes
US10262102B2 (en) 2016-02-24 2019-04-16 Seven Bridges Genomics Inc. Systems and methods for genotyping with graph reference
US10790044B2 (en) 2016-05-19 2020-09-29 Seven Bridges Genomics Inc. Systems and methods for sequence encoding, storage, and compression
US10600499B2 (en) 2016-07-13 2020-03-24 Seven Bridges Genomics Inc. Systems and methods for reconciling variants in sequence data relative to reference sequence data
US11289177B2 (en) 2016-08-08 2022-03-29 Seven Bridges Genomics, Inc. Computer method and system of identifying genomic mutations using graph-based local assembly
US11250931B2 (en) 2016-09-01 2022-02-15 Seven Bridges Genomics Inc. Systems and methods for detecting recombination
WO2018060365A1 (en) * 2016-09-29 2018-04-05 Koninklijke Philips N.V. Genomic variant ranking system for clinical trial matching
SG11201903270RA (en) * 2016-10-11 2019-05-30 Genomsys Sa Method and system for selective access of stored or transmitted bioinformatics data
US10319465B2 (en) 2016-11-16 2019-06-11 Seven Bridges Genomics Inc. Systems and methods for aligning sequences to graph references
US11347844B2 (en) 2017-03-01 2022-05-31 Seven Bridges Genomics, Inc. Data security in bioinformatic sequence analysis
US10726110B2 (en) 2017-03-01 2020-07-28 Seven Bridges Genomics, Inc. Watermarking for data security in bioinformatic sequence analysis
EP3607481A1 (en) * 2017-04-06 2020-02-12 Koninklijke Philips N.V. Method and apparatus for masking clinically irrelevant ancestry information in genetic data
US11177042B2 (en) * 2017-08-23 2021-11-16 International Business Machines Corporation Genetic disease modeling
CN107609348B (zh) * 2017-08-29 2020-06-23 上海三誉华夏基因科技有限公司 高通量转录组数据样本分类数目估计方法
US20190156923A1 (en) * 2017-11-17 2019-05-23 LunaPBC Personal, omic, and phenotype data community aggregation platform
CN107967410B (zh) * 2017-11-27 2021-07-30 电子科技大学 一种面向基因表达与甲基化数据的融合方法
CN107944224B (zh) * 2017-12-06 2021-04-13 懿奈(上海)生物科技有限公司 构建皮肤相关基因标准型别数据库的方法及应用
US12046325B2 (en) 2018-02-14 2024-07-23 Seven Bridges Genomics Inc. System and method for sequence identification in reassembly variant calling
US11574701B1 (en) 2018-11-28 2023-02-07 Allscripts Software, Llc Computing system for normalizing computer-readable genetic test results from numerous different sources
WO2020139379A1 (en) 2018-12-28 2020-07-02 LunaPBC Community data aggregation, completion, correction, and use
CN109979537B (zh) * 2019-03-15 2020-12-18 南京邮电大学 一种面向多条序列的基因序列数据压缩方法
CN111028883B (zh) * 2019-11-20 2023-07-18 广州达美智能科技有限公司 基于布尔代数的基因处理方法、装置及可读存储介质
CN111785370B (zh) * 2020-07-01 2024-05-17 医渡云(北京)技术有限公司 病历数据处理方法及装置、计算机存储介质、电子设备
US20230260598A1 (en) * 2022-02-14 2023-08-17 AiOnco, Inc. Approaches to normalizing genetic information derived by different types of extraction kits to be used for screening, diagnosing, and stratifying patients and systems for implementing the same
CN115602249B (zh) * 2022-10-24 2025-12-30 哈尔滨工程大学 基于多视角图卷积网络的长链非编码rna-疾病关联预测系统
WO2024186701A1 (en) * 2023-03-03 2024-09-12 AiOnco, Inc. Algorithmic approach to removing extraction kit bias from genetic information and system for implementing the same
CN119541627B (zh) * 2025-01-22 2025-05-09 温州医科大学附属眼视光医院 一种在基因转录水平评价蛋白质结合效率的方法、设备、介质和程序产品
CN120496715B (zh) * 2025-05-23 2026-04-17 康奥生物科技(天津)股份有限公司 一种试验遴选研究方法及系统

Family Cites Families (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2440035A1 (en) * 2001-03-05 2002-09-12 Gene Logic, Inc. A system and method for managing gene expression data
US7529685B2 (en) * 2001-08-28 2009-05-05 Md Datacor, Inc. System, method, and apparatus for storing, retrieving, and integrating clinical, diagnostic, genomic, and therapeutic data
JP2003271735A (ja) * 2002-03-12 2003-09-26 Yokogawa Electric Corp 遺伝子診断分析装置およびそれを用いた遺伝子診断支援システム
US7729865B2 (en) * 2003-10-06 2010-06-01 Cerner Innovation, Inc. Computerized method and system for automated correlation of genetic test results
WO2006052242A1 (en) * 2004-11-08 2006-05-18 Seirad, Inc. Methods and systems for compressing and comparing genomic data
US20060223058A1 (en) * 2005-04-01 2006-10-05 Perlegen Sciences, Inc. In vitro association studies
CN101378764A (zh) * 2005-12-09 2009-03-04 贝勒研究院 通过血液白细胞微阵列分析对系统性红斑狼疮的诊断、预后和疾病发展的监测
JP4852313B2 (ja) * 2006-01-20 2012-01-11 富士通株式会社 ゲノム解析プログラム、該プログラムを記録した記録媒体、ゲノム解析装置およびゲノム解析方法
CA2688312A1 (en) * 2007-05-25 2008-12-04 Decode Genetics Ehf. Genetic variants on chr 5p12 and 10q26 as markers for use in breast cancer risk assessment, diagnosis, prognosis and treatment
CN102067142A (zh) * 2008-02-26 2011-05-18 普渡研究基金会 用于患者基因分型的方法
JP2010157214A (ja) * 2008-12-02 2010-07-15 Sony Corp 遺伝子クラスタリングプログラム、遺伝子クラスタリング方法及び遺伝子クラスター解析装置

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