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Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference

期刊

NATURE COMMUNICATIONS
卷 9, 期 -, 页码 -

出版社

NATURE PUBLISHING GROUP
DOI: 10.1038/s41467-018-03109-y

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资金

  1. Medical Research Council [MC_UU_12013/3, MC_UU_12013/1, G0902313, MR/L020149/1]
  2. CRUK Integrative Cancer Epidemiology Programme [C18281/A19169]
  3. UK Medical Research Council [MR/L003120/1]
  4. British Heart Foundation [RG/13/13/30194]
  5. NIHR Cambridge Biomedical Research Centre
  6. BHF Cambridge Centre of Excellence [RE/13/6/30180]
  7. Wellcome Trust [105602/Z/14/Z, 090532, 098381, 106130, 102215/2/13/2]
  8. Li Ka Shing Foundation
  9. NIHR Oxford Biomedical Research Centre
  10. European Research Council [ERC-2015-CoG-681742-NASCENT]
  11. Swedish Research Council (Distinguished Young Researcher Award in Medicine)
  12. NIHR
  13. Wellcome Trust Investigator Award [WT 202849/Z/16/Z]
  14. Medical Research Council Clinical Research Training Fellowship [MR/P00167X/1]
  15. NIH [R01DK098032, U01DK105535]
  16. National Institute for Health Research (NIHR) Oxford BRC
  17. NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES [U01DK105535] Funding Source: NIH RePORTER
  18. British Heart Foundation [RG/16/4/32218] Funding Source: researchfish
  19. Cancer Research UK [19169] Funding Source: researchfish
  20. Medical Research Council [HDR-5006, MR/N011317/1, MC_EX_MR/M01424X/1, G9815508, HDR-1004, MR/P013880/1, G0600705, MR/P00167X/1, MC_U123292700, MR/L003120/1, MC_UU_12013/4, MR/P02811X/1, MC_PC_15018, MR/L010305/1, MC_PC_MR/R020183/1, MC_UU_00026/3, MC_UU_12012/1, MC_UU_12012/5] Funding Source: researchfish
  21. National Institute for Health Research [NF-SI-0617-10113, NF-SI-0611-10099, NF-SI-0512-10165, NF-SI-0513-10109] Funding Source: researchfish
  22. Novo Nordisk Fonden [NNF17OC0026828] Funding Source: researchfish
  23. MRC [MR/P02811X/1, MC_U123292700, MC_UU_12012/1, MC_UU_12013/4, MR/L003120/1, MC_PC_MR/R020183/1, G0902313, MC_UU_12012/5, MR/P00167X/1, MC_EX_MR/M01424X/1, MR/P013880/1, MR/N011317/1, MC_UU_00026/3, G0600705, MC_UU_12013/3, MR/L020149/1, MC_UU_12013/1] Funding Source: UKRI

向作者/读者索取更多资源

Detailed phenotyping is required to deepen our understanding of the biological mechanisms behind genetic associations. In addition, the impact of potentially modifiable risk factors on disease requires analytical frameworks that allow causal inference. Here, we discuss the characteristics of Recall-by-Genotype (RbG) as a study design aimed at addressing both these needs. We describe two broad scenarios for the application of RbG: studies using single variants and those using multiple variants. We consider the efficacy and practicality of the RbG approach, provide a catalogue of UK-based resources for such studies and present an online RbG study planner.

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