基于生物信息分析技术的精准医疗
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摘要
对目前生物信息学分析流程、具体应用进行分析,包括精神疾病药物使用指导、敏感性药物基因筛查等方面,对相关人才培养、生物医学大数据、精准医疗争论等相关问题进行讨论,希望对相关学科的应用与发展有所启发。
The paper analyzes the analysis procedure and specific application of bioinformatics, including guidance on the use of psychiatric drugs and drug sensitivity genetic testing, etc. It discusses the cultivation of concerned talents, biomedicine big data, arguments about precision medicine and other related issues, expecting to provide inspiration for the application and development of related disciplines.
The paper analyzes the analysis procedure and specific application of bioinformatics, including guidance on the use of psychiatric drugs and drug sensitivity genetic testing, etc. It discusses the cultivation of concerned talents, biomedicine big data, arguments about precision medicine and other related issues, expecting to provide inspiration for the application and development of related disciplines.
引文
1 Ng S B, Turner E H, Robertson P D, et al. Targeted Capture and Massively Parallel Sequencing of 12 Human Exomes[J]. Nature, 2009, 461(7261):272-276.
2 Ng S B, Buckingham K J, Lee C, et al. Exome Sequencing Identifies the Cause of a Mendelian Disorder[J]. Nature Genetics, 2009, 42(1):30-35.
3 Maher C A, Kumar-Sinha C, Cao X, et al. Transcriptome Sequencing to Detect Gene Fusions in Cancer[J].Nature, 2009, 458(7234):97-101.
4中国麻醉药理学会麻醉药理学专业委员会.麻醉药品和精神药品管理条例[C].全国第三次麻醉药理学术会议论文集,2012:15.
5杨传青,王周然,孔志,等.37例可待因类止咳水成瘾患者临床特征分析[J].中国药物滥用防治杂志,2018, 24(2):70-72.
6董红霞.精准医疗基因检测指导精神科用药方案的一例报告[J].神经损伤与功能重建,2019, 14(1):51-52.
7 Maggo S D S, Savage R L, Kennedy M A. Impact of New Genomic Technologies on Understanding Adverse Drug Reactions[J]. Clinical Pharmacokinetics, 2016, 55(4):419-436.
8 Hollingworth P, Harold D, Jones L, et al. Alzheimer's Disease Genetics:current knowledge and future challenges[J]. International Journal of Geriatric Psychiatry, 2011, 26(8):793-802.
9 Kinsella E. Exome Sequencing Reveals an Unexpected Genetic Cause of Disease:NOTCH3 mutation in a Turkish family with Alzheimer's disease[J]. Neurobiology of Aging,2012, 33(5):1008.
10 High Frequency of Potentially Pathogenic SORL1 Mutations in Autosomal Dominant Early-onset Alzheimer Disease[J]. Molecular Psychiatry, 2012, 17(9):875-879.
11 Pottier C, Wallon D, Rousseau S, et al. TREM2 R47H Variant as a Risk Factor for Early-onset Alzheimer's Disease[J]. Journal of Alzheimers Disease Jad, 2013, 35(1):45-49.
12张乐吟,孙磊涛,沈敏鹤.基因变异检测技术在恶性肿瘤精准医疗中的应用[J].中国肿瘤生物治疗杂志,2019, 26(1):22-28.,
13 Cao C, Mak L, Jin G, et al. PRESM:personalized reference editor for somatic mutation discovery in cancer genomics[J]. Bioinformatics, 2019, 35(9):1445-1452.
14 Cuckler G A. National Health Expenditure Projections,2012-22:slow growth until coverage expands and economy improves[J]. Health Affairs, 2013, 32(10):1820-1831.
15 Perez J A, Poon C C Y, Merrifield R D, et al. Big Data for Health[J]. Biomedical&Health Informatics IEEE Journal of, 2015, 19(4):1.
16廖庆宏.健康管理中心基因体检的营销策略研究[D].电子科技大学,2014.
17 Prasad V. Perspective:the precision-oncology illusion[J]. Nature, 2016, 537(7619):S63.
18 Abrahams, Edward, Eck, Stephen L. Precision Oncology is Not an Illusion[J]. Nature:2016(539):357
2 Ng S B, Buckingham K J, Lee C, et al. Exome Sequencing Identifies the Cause of a Mendelian Disorder[J]. Nature Genetics, 2009, 42(1):30-35.
3 Maher C A, Kumar-Sinha C, Cao X, et al. Transcriptome Sequencing to Detect Gene Fusions in Cancer[J].Nature, 2009, 458(7234):97-101.
4中国麻醉药理学会麻醉药理学专业委员会.麻醉药品和精神药品管理条例[C].全国第三次麻醉药理学术会议论文集,2012:15.
5杨传青,王周然,孔志,等.37例可待因类止咳水成瘾患者临床特征分析[J].中国药物滥用防治杂志,2018, 24(2):70-72.
6董红霞.精准医疗基因检测指导精神科用药方案的一例报告[J].神经损伤与功能重建,2019, 14(1):51-52.
7 Maggo S D S, Savage R L, Kennedy M A. Impact of New Genomic Technologies on Understanding Adverse Drug Reactions[J]. Clinical Pharmacokinetics, 2016, 55(4):419-436.
8 Hollingworth P, Harold D, Jones L, et al. Alzheimer's Disease Genetics:current knowledge and future challenges[J]. International Journal of Geriatric Psychiatry, 2011, 26(8):793-802.
9 Kinsella E. Exome Sequencing Reveals an Unexpected Genetic Cause of Disease:NOTCH3 mutation in a Turkish family with Alzheimer's disease[J]. Neurobiology of Aging,2012, 33(5):1008.
10 High Frequency of Potentially Pathogenic SORL1 Mutations in Autosomal Dominant Early-onset Alzheimer Disease[J]. Molecular Psychiatry, 2012, 17(9):875-879.
11 Pottier C, Wallon D, Rousseau S, et al. TREM2 R47H Variant as a Risk Factor for Early-onset Alzheimer's Disease[J]. Journal of Alzheimers Disease Jad, 2013, 35(1):45-49.
12张乐吟,孙磊涛,沈敏鹤.基因变异检测技术在恶性肿瘤精准医疗中的应用[J].中国肿瘤生物治疗杂志,2019, 26(1):22-28.,
13 Cao C, Mak L, Jin G, et al. PRESM:personalized reference editor for somatic mutation discovery in cancer genomics[J]. Bioinformatics, 2019, 35(9):1445-1452.
14 Cuckler G A. National Health Expenditure Projections,2012-22:slow growth until coverage expands and economy improves[J]. Health Affairs, 2013, 32(10):1820-1831.
15 Perez J A, Poon C C Y, Merrifield R D, et al. Big Data for Health[J]. Biomedical&Health Informatics IEEE Journal of, 2015, 19(4):1.
16廖庆宏.健康管理中心基因体检的营销策略研究[D].电子科技大学,2014.
17 Prasad V. Perspective:the precision-oncology illusion[J]. Nature, 2016, 537(7619):S63.
18 Abrahams, Edward, Eck, Stephen L. Precision Oncology is Not an Illusion[J]. Nature:2016(539):357