RU2013138422A - Способ обработки геномных данных - Google Patents
Способ обработки геномных данных Download PDFInfo
- Publication number
- RU2013138422A RU2013138422A RU2013138422/10A RU2013138422A RU2013138422A RU 2013138422 A RU2013138422 A RU 2013138422A RU 2013138422/10 A RU2013138422/10 A RU 2013138422/10A RU 2013138422 A RU2013138422 A RU 2013138422A RU 2013138422 A RU2013138422 A RU 2013138422A
- Authority
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- Prior art keywords
- information
- genomic sequence
- subject
- tissue
- sequence information
- Prior art date
Links
- 238000000034 method Methods 0.000 title claims abstract 18
- 238000012545 processing Methods 0.000 title claims abstract 3
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 claims abstract 15
- 210000001519 tissue Anatomy 0.000 claims abstract 12
- 201000010099 disease Diseases 0.000 claims abstract 9
- 208000035475 disorder Diseases 0.000 claims abstract 6
- 238000000605 extraction Methods 0.000 claims abstract 5
- 210000000056 organ Anatomy 0.000 claims abstract 4
- 239000000203 mixture Substances 0.000 claims abstract 3
- 238000009966 trimming Methods 0.000 claims abstract 3
- 206010028980 Neoplasm Diseases 0.000 claims abstract 2
- 238000001574 biopsy Methods 0.000 claims abstract 2
- 210000004369 blood Anatomy 0.000 claims abstract 2
- 239000008280 blood Substances 0.000 claims abstract 2
- 210000001124 body fluid Anatomy 0.000 claims abstract 2
- 239000010839 body fluid Substances 0.000 claims abstract 2
- 210000004027 cell Anatomy 0.000 claims abstract 2
- 210000002808 connective tissue Anatomy 0.000 claims abstract 2
- 239000012634 fragment Substances 0.000 claims abstract 2
- 230000002496 gastric effect Effects 0.000 claims abstract 2
- 210000004185 liver Anatomy 0.000 claims abstract 2
- 210000003205 muscle Anatomy 0.000 claims abstract 2
- 210000000944 nerve tissue Anatomy 0.000 claims abstract 2
- 210000001672 ovary Anatomy 0.000 claims abstract 2
- 210000000496 pancreas Anatomy 0.000 claims abstract 2
- 210000003296 saliva Anatomy 0.000 claims abstract 2
- 210000002966 serum Anatomy 0.000 claims abstract 2
- 210000000952 spleen Anatomy 0.000 claims abstract 2
- 210000002105 tongue Anatomy 0.000 claims abstract 2
- 210000002700 urine Anatomy 0.000 claims abstract 2
- 230000002068 genetic effect Effects 0.000 claims 8
- 230000011987 methylation Effects 0.000 claims 5
- 238000007069 methylation reaction Methods 0.000 claims 5
- 108090000623 proteins and genes Proteins 0.000 claims 5
- 230000037430 deletion Effects 0.000 claims 4
- 238000012217 deletion Methods 0.000 claims 4
- 230000037431 insertion Effects 0.000 claims 4
- 238000003780 insertion Methods 0.000 claims 4
- 230000001105 regulatory effect Effects 0.000 claims 4
- 230000014509 gene expression Effects 0.000 claims 3
- 230000008707 rearrangement Effects 0.000 claims 3
- 239000002773 nucleotide Substances 0.000 claims 2
- 125000003729 nucleotide group Chemical group 0.000 claims 2
- 230000037361 pathway Effects 0.000 claims 2
- 238000012163 sequencing technique Methods 0.000 claims 2
- 108091032973 (ribonucleotides)n+m Proteins 0.000 claims 1
- 206010006187 Breast cancer Diseases 0.000 claims 1
- 208000026310 Breast neoplasm Diseases 0.000 claims 1
- 108700024394 Exon Proteins 0.000 claims 1
- 108700039691 Genetic Promoter Regions Proteins 0.000 claims 1
- 108010033040 Histones Proteins 0.000 claims 1
- 108091092195 Intron Proteins 0.000 claims 1
- 108020004485 Nonsense Codon Proteins 0.000 claims 1
- 206010033128 Ovarian cancer Diseases 0.000 claims 1
- 206010061535 Ovarian neoplasm Diseases 0.000 claims 1
- 206010060862 Prostate cancer Diseases 0.000 claims 1
- 208000000236 Prostatic Neoplasms Diseases 0.000 claims 1
- 108010026552 Proteome Proteins 0.000 claims 1
- 230000000295 complement effect Effects 0.000 claims 1
- 238000004590 computer program Methods 0.000 claims 1
- 230000003426 interchromosomal effect Effects 0.000 claims 1
- 238000012544 monitoring process Methods 0.000 claims 1
- 230000037434 nonsense mutation Effects 0.000 claims 1
- 230000000771 oncological effect Effects 0.000 claims 1
- -1 promoters Proteins 0.000 claims 1
- 102000004169 proteins and genes Human genes 0.000 claims 1
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
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
-
- 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
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
- G16B30/10—Sequence alignment; Homology search
-
- 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
- G16B20/10—Ploidy or copy number 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
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/40—Population genetics; Linkage disequilibrium
Landscapes
- Life Sciences & Earth Sciences (AREA)
- Physics & Mathematics (AREA)
- Health & Medical Sciences (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Engineering & Computer Science (AREA)
- Biophysics (AREA)
- General Health & Medical Sciences (AREA)
- Analytical Chemistry (AREA)
- Chemical & Material Sciences (AREA)
- Bioinformatics & Computational Biology (AREA)
- Biotechnology (AREA)
- Evolutionary Biology (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Medical Informatics (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Theoretical Computer Science (AREA)
- Genetics & Genomics (AREA)
- Molecular Biology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
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 (1)
| Publication Number | Publication Date |
|---|---|
| RU2013138422A true RU2013138422A (ru) | 2015-02-27 |
Family
ID=45607311
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| RU2013138422/10A RU2013138422A (ru) | 2011-01-19 | 2012-01-19 | Способ обработки геномных данных |
Country Status (7)
| Country | Link |
|---|---|
| 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)
| 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)
| 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 |
-
2012
- 2012-01-19 CN CN202010098891.4A patent/CN111192634A/zh active Pending
- 2012-01-19 JP JP2013549922A patent/JP6420543B2/ja not_active Expired - Fee Related
- 2012-01-19 EP EP12704126.7A patent/EP2666115A1/en not_active Withdrawn
- 2012-01-19 BR BR112013018139A patent/BR112013018139A8/pt not_active IP Right Cessation
- 2012-01-19 WO PCT/IB2012/050255 patent/WO2012098515A1/en not_active Ceased
- 2012-01-19 RU RU2013138422/10A patent/RU2013138422A/ru not_active Application Discontinuation
- 2012-01-19 CN CN2012800059273A patent/CN103329138A/zh active Pending
- 2012-01-19 US US13/979,908 patent/US20140229495A1/en not_active Abandoned
Also Published As
| Publication number | Publication date |
|---|---|
| JP2014508994A (ja) | 2014-04-10 |
| WO2012098515A1 (en) | 2012-07-26 |
| CN103329138A (zh) | 2013-09-25 |
| US20140229495A1 (en) | 2014-08-14 |
| BR112013018139A2 (pt) | 2016-11-08 |
| JP6420543B2 (ja) | 2018-11-07 |
| CN111192634A (zh) | 2020-05-22 |
| BR112013018139A8 (pt) | 2018-02-06 |
| EP2666115A1 (en) | 2013-11-27 |
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Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| FA92 | Acknowledgement of application withdrawn (lack of supplementary materials submitted) |
Effective date: 20170111 |