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The GCTx format and cmap{Py, R, M, J} packages: resources for optimized storage and integrated traversal of annotated dense matrices.GCTx 格式和 cmap{Py, R, M, J} 包:用于优化存储和注释密集矩阵集成遍历的资源。
Bioinformatics. 2019 Apr 15;35(8):1427-1429. doi: 10.1093/bioinformatics/bty784.
2
PharmacoDB: an integrative database for mining in vitro anticancer drug screening studies.PharmacoDB:一个用于挖掘体外抗癌药物筛选研究的综合数据库。
Nucleic Acids Res. 2018 Jan 4;46(D1):D994-D1002. doi: 10.1093/nar/gkx911.
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Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.在英国生物库研究的 337,205 个人中,蛋白质截断变异的医学相关性。
Nat Commun. 2018 Apr 24;9(1):1612. doi: 10.1038/s41467-018-03910-9.
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The Library of Integrated Network-Based Cellular Signatures NIH Program: System-Level Cataloging of Human Cells Response to Perturbations.集成网络细胞特征图谱 NIH 计划库:人类细胞对扰动反应的系统水平编目。
Cell Syst. 2018 Jan 24;6(1):13-24. doi: 10.1016/j.cels.2017.11.001. Epub 2017 Nov 29.
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A Next Generation Connectivity Map: L1000 Platform and the First 1,000,000 Profiles.下一代连接图谱:L1000平台及首批100万个图谱
Cell. 2017 Nov 30;171(6):1437-1452.e17. doi: 10.1016/j.cell.2017.10.049.
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Reconstructing cancer drug response networks using multitask learning.使用多任务学习重建癌症药物反应网络。
BMC Syst Biol. 2017 Oct 10;11(1):96. doi: 10.1186/s12918-017-0471-8.
7
Effect of Genotype-Guided Warfarin Dosing on Clinical Events and Anticoagulation Control Among Patients Undergoing Hip or Knee Arthroplasty: The GIFT Randomized Clinical Trial.基因型指导的华法林剂量调整对髋或膝关节置换术患者临床事件及抗凝控制的影响:GIFT随机临床试验
JAMA. 2017 Sep 26;318(12):1115-1124. doi: 10.1001/jama.2017.11469.
8
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Genome Res. 2017 Oct;27(10):1743-1751. doi: 10.1101/gr.221077.117. Epub 2017 Aug 28.
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Clin Pharmacol Ther. 2017 Nov;102(5):859-869. doi: 10.1002/cpt.709. Epub 2017 Jun 15.
10
COSMIC: somatic cancer genetics at high-resolution.COSMIC:高分辨率体细胞癌遗传学
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药物基因组学和大型基因组数据:从实验室到临床,再回到实验室。

Pharmacogenomics and big genomic data: from lab to clinic and back again.

机构信息

Biomedical Informatics Training Program, Stanford University, Stanford, CA 94305, USA.

Department of Genetics, Stanford University, Stanford, CA 94305, USA.

出版信息

Hum Mol Genet. 2018 May 1;27(R1):R72-R78. doi: 10.1093/hmg/ddy116.

DOI:10.1093/hmg/ddy116
PMID:29635477
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5946941/
Abstract

The field of pharmacogenomics is an area of great potential for near-term human health impacts from the big genomic data revolution. Pharmacogenomics research momentum is building with numerous hypotheses currently being investigated through the integration of molecular profiles of different cell lines and large genomic data sets containing information on cellular and human responses to therapies. Additionally, the results of previous pharmacogenetic research efforts have been formulated into clinical guidelines that are beginning to impact how healthcare is conducted on the level of the individual patient. This trend will only continue with the recent release of new datasets containing linked genotype and electronic medical record data. This review discusses key resources available for pharmacogenomics and pharmacogenetics research and highlights recent work within the field.

摘要

药物基因组学领域是从大型基因组数据革命中获得近期人类健康影响的极具潜力的领域。药物基因组学研究的势头正在增强,目前正在通过整合不同细胞系的分子谱和包含细胞和人类对治疗反应信息的大型基因组数据集来研究众多假说。此外,先前药物遗传学研究工作的结果已被纳入临床指南,这些指南开始影响如何在个体患者层面开展医疗保健。随着最近包含关联基因型和电子病历数据的新数据集的发布,这种趋势只会继续下去。这篇综述讨论了药物基因组学和药物遗传学研究的可用关键资源,并重点介绍了该领域的最新工作。