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| 1 | 胆固醇酯转移蛋白基因的蛋白质截断型变异体与冠状动脉性心脏病风险的关系显示文摘随机对照试验结果表明,抑制胆固醇酯转运蛋白(cholesteryl ester transfer protein,CETP)的疗法并不能降低冠状动脉性心脏病(coronary heart disease,CHD)的发生风险。研究失败的可能原因包括靶目标无效、靶目标外小分子的不良反应和随机对照设计因素影响等。在编码药物靶点的基因中具有天然存在的遗传变异,以此为基础,人类研究可以深入了解针对基因产物的治疗的潜在功效和安全性。 | Nomura A Won HH Khera AV Takeuchi F Ito K McCarthy S Emdin CA Klarin D Natarajan P Zekavat SM Gupta N Peloso GM Borecki IB Teslovich TM Asselta R Duga S Merlini PA Correa A Kessler T Wilson JG Bown MJ Hall AS Braund PS Carey DJ Murray MF Kirchner HL Leader JB Lavage DR Manus JN Hartze DN Samani NJ Schunkert H Marrugat J Elosua R McPherson R Farrall M Watkins H Juang JJ Hsiung CA Lin SY Wang JS Tada H Kawashiri MA Inazu A Yamagishi M Katsuya T Nakashima E Nakatochi M Yamamoto K Yokota M Momozawa Y Rotter JI Lander ES Rader DJ Danesh J Ardissino D Gabriel S Willer CJ Abecasis GR Saleheen D Kubo M Kato N Ida Chen YD Dewey FE Kathiresan S 刘莉 叶鹏 | 2017 | 中华高血压杂志2017，25，9： | 2 |
| 2 | An integrated map of genetic variation from 1, 092 human genomes显示文摘 | Abecasis GR | 2012 | Nature2012，491，7422： | 1 |
| 3 | Response to Graffelman: Tests of Hardy - Weinberg Equilibrium 显示文摘 | Cutler D J Abecasis GR | 2010 | Am J Hum Genet2010，86，5： | 1 |
| 4 | An integrated map of genetic variation from 1,092 human genomes 显示文摘 | Genomes Project C Abecasis GR Anton A | 2012 | Nature2012，491，7422： | 1 |
| 5 | A map of human genome variation from population-scale sequencing 显示文摘 | Durbin RM Abecasis GR | 2010 | Nature2010，467，： | 1 |
| 6 | Singlenucleotide polymorphism and linkagedisequilibrium within the TCR alpha / deltalocus 显示文摘 | Moffatt MF Traherne JA Abecasis GR et a 1 | 2009 | Hum Mo 1 Genet2009，9，： | 1 |
| 7 | Genome- wide association studies for complex traits:consensus, uncertainty and challenges显示文摘 | McCarthy MI Abecasis GR Cardon LR | 2008 | Nat Rev Genet2008，9，5： | 1 |
| 8 | Genome-wide association studies for complex traits: consensus, uncertainty and challenges 显示文摘 | McCarthy MI Abecasis GR Cardon LR | 2008 | Nat Rev Genet2008，9，5： | 1 |
| 9 | Response to Graffelman:tests of hardy-weinberg equilibrium显示文摘 | Cutler DJ Abecasis GR | 2010 | Am J Human Gene2010，86，5： | 1 |
| 10 | Genome-wide association studies for complex traits:consensus,uncertainty and challenges显示文摘 | Mccarthy MI Abecasis GR Cardon LR | | 0，，05： | 1 |
| 11 | A note on exact tests of Hardy-Weinberg equilibrium显示文摘 | Wigginton JE Cutler DJ Abecasis GR | 2005 | Am J Hum Genet2005，76，1： | 1 |
| 12 | A first-generation linkage disequilibrium map of human chromosome 22显示文摘 | Dawson E Abecasis GR Bumpstead S | 2002 | Nature2002，418，： | 1 |
| 13 | Joint analysis is more ef- ficient than replication-based analysis {or two-stage genome-wide association studies 显示文摘 | Skol AD Scott LJ Abecasis GR | 2006 | Nat Genet2006，38，2： | 1 |
| 14 | Genome-wide association studies for complex traits: consensus, uncertainty and challenges显示文摘 | McCarthy MI Abecasis GR Cardon LR | 2008 | Nat Rev Genet2008，9，5： | 1 |
| 15 | A note on exact tests of Hardy-Weinberg equilibrium 显示文摘 | Wigginton JE Cutler D J Abecasis GR | 2005 | Am J Hum Genet2005，76，5： | 1 |
| 16 | Using haplotype blocks to map human complex trait loci显示文摘 | Cardon LR Abecasis GR | 2003 | Trends Genet2003，19，3： | 1 |
| 17 | Merlin rapid analysis of dense genetic maps using sparse gene flow trees显示文摘 | Abecasis GR Cherny SS Cookson WO | 2002 | Nat Genet2002，30，1： | 1 |
| 18 | Optimal designs for two-stage genome-wide association studies显示文摘 | Skol AD Scott LJ Abecasis GR | 2007 | Genet Epidemiol2007，31，7： | 1 |
| 19 | Genome-wide association studies for complex traits: consensus, uncertainty and challenges 显示文摘 | McCarthy MI Abecasis GR Cardon LR | 2008 | Nat Rev Genet2008，9，5： | 1 |
| 20 | Genome-wide association studies for complex traits:consensus,uncertainty and challenges显示文摘 | McCarthy MI Abecasis GR Cardon LR | | 0，，： | 1 |
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