ReviewNature communications2018
Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.
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Review in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
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43citing papers in PubMed, 1 pooled it
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics.Science translational medicine · 2020Pooled it
- Polygenic risk scores in human genetics for study design discovery and translation.Human genetics · 2026Review
- Elucidating the proteomic pathways linking childhood body mass index with type 2 diabetes: a Mendelian randomization and recall-by-genotype study.International journal of epidemiology · 2026Article
- The SINTER study: a recall-by-genotype design with multidimensional musculoskeletal phenotyping across internal-medicine outpatient clinics.European journal of epidemiology · 2026Article
- Mandibular Cortical Thickness Predicts Skull BMD in Adolescents.Calcified tissue international · 2026Article
- Genetic and epidemiologic assessment of mandibular cortical indices and bone mineral density in peripubertal children: the Generation R study.Clinical oral investigations · 2025Article
- Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study.Human genetics · 2025Article
- Precision nutrition for cardiometabolic diseases.Nature medicine · 2025Review
- How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study.Journal of community genetics · 2024Article
- Blood metabolites mediate effects of breakfast skipping on heart failure via Mendelian randomization analysis.Scientific reports · 2024Article
- Variability of polygenic prediction for body mass index in Africa.Genome medicine · 2024Article
- Harnessing the power of proteomics in precision diabetes medicine.Diabetologia · 2024Review
- The association between body mass index and metabolite response to a liquid mixed meal challenge: a Mendelian randomization study.The American journal of clinical nutrition · 2024Article
- Proof-of-concept recall-by-genotype study of extremely low and high Alzheimer's polygenic risk reveals autobiographical deficits and cingulate cortex correlates.Alzheimer's research & therapy · 2023Article
- Participant perspective on the recall-by-genotype research approach: a mixed-method embedded study with participants of the CHRIS study.European journal of human genetics : EJHG · 2023Article
- A FinnGen pilot clinical recall study for Alzheimer's disease.Scientific reports · 2023Article
- PNPLA3 rs738409 risk genotype decouples TyG index from HOMA2-IR and intrahepatic lipid content.Cardiovascular diabetology · 2023Article
- Study protocol of the Berlin Research Initiative for Diagnostics, Genetics and Environmental Factors in Schizophrenia (BRIDGE-S).BMC psychiatry · 2023Article
- Genotype first: Clinical genomics research through a reverse phenotyping approach.American journal of human genetics · 2023Review
- Enhancing Molecular Testing for Effective Delivery of Actionable Gene Diagnostics.Bioengineering (Basel, Switzerland) · 2022Review
Corrections and comments
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Authors and funding
31 authors.
Laura J CorbinMRC Integrative Epidemiology Unit at University of Bristol, Bristol, BS8 2BN, UK.ORCID http://orcid.org/0000-0002-4032-9500
Vanessa Y TanMRC Integrative Epidemiology Unit at University of Bristol, Bristol, BS8 2BN, UK.
David A HughesMRC Integrative Epidemiology Unit at University of Bristol, Bristol, BS8 2BN, UK.
Kaitlin H WadeMRC Integrative Epidemiology Unit at University of Bristol, Bristol, BS8 2BN, UK.
Dirk S PaulMRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.ORCID http://orcid.org/0000-0002-8230-0116
Katherine E TanseyCore Bioinformatics and Statistics Team, College of Biomedical & Life Sciences, Cardiff University, Cardiff, CF10 3XQ, UK.
Frances ButcherOxford School of Public Health, University of Oxford, Oxford, OX3 7LF, UK.
Frank DudbridgeDepartment of Health Sciences, University of Leicester, Leicester, LE1 7RH, UK.
Joanna M HowsonMRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
Momodou W JallowDepartment of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, London, WC1E 7HT, UK.
Catherine JohnDepartment of Health Sciences, University of Leicester, Leicester, LE1 7RH, UK.
Nathalie KingstonNational Institute for Health Research (NIHR) BioResource for Translational Research in Common and Rare Diseases & NIHR BioResource Centre Cambridge, University of Cambridge, Cambridge, CB2 0QQ, UK.
Cecilia M LindgrenBig Data Institute at the Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, OX3 7FZ, UK.
Michael O'DonavanMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, CF24 4HQ, UK.ORCID http://orcid.org/0000-0001-7073-2379
Stephen O'RahillyMetabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Cambridge, CB2 0QQ, UK.ORCID http://orcid.org/0000-0003-2199-4449
Michael J OwenMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, CF24 4HQ, UK.ORCID http://orcid.org/0000-0003-4798-0862
Colin N A PalmerMedical Research Institute, University of Dundee, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK.ORCID http://orcid.org/0000-0002-6415-6560
Ewan R PearsonMedical Research Institute, University of Dundee, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK.
Robert A ScottQuantitative Sciences, GlaxoSmithKline, Stevenage, SG1 2NY, UK.
David A van HeelBlizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, UK.ORCID http://orcid.org/0000-0002-0637-2265
John WhittakerDepartment of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, London, WC1E 7HT, UK.
Tim FraylingGenetics of Complex Traits, Institute of Biomedical and Clinical Science, University of Exeter Medical School, Royal Devon and Exeter Hospital, Exeter, EX1 2LU, UK.
Martin D TobinDepartment of Health Sciences, University of Leicester, Leicester, LE1 7RH, UK.ORCID http://orcid.org/0000-0002-3596-7874
Louise V WainDepartment of Health Sciences, University of Leicester, Leicester, LE1 7RH, UK.ORCID http://orcid.org/0000-0003-4951-1867
George Davey SmithMRC Integrative Epidemiology Unit at University of Bristol, Bristol, BS8 2BN, UK.
David M EvansMRC Integrative Epidemiology Unit at University of Bristol, Bristol, BS8 2BN, UK.
Fredrik KarpeOxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, OX3 7LE, UK.
Mark I McCarthyWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK.ORCID http://orcid.org/0000-0002-4393-0510
John DaneshMRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
Paul W FranksOxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, OX3 7LE, UK.
Nicholas J TimpsonMRC Integrative Epidemiology Unit at University of Bristol, Bristol, BS8 2BN, UK. n.j.timpson@bristol.ac.uk.
Funding
The Impact of Human Gene Knockouts in Type 2 Diabetes and Related TraitsR01DK098032 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L, FLANNICK, JASON · 2012 to 2015
$2.3MIntegrating genome-scale data to reveal causal mechanisms in type 2 diabetesU01DK105535 · NIDDK · UNIVERSITY OF OXFORD · PI GLOYN, ANNA LOUISE · 2015 to 2019
$1.7MBritish Heart Foundation CH/12/2/29428British Heart Foundation RG/16/4/32218British Heart Foundation SP/08/007/23628Cancer Research UK 19169Medical Research Council G0600705Medical Research Council G0902313Medical Research Council G9815508Medical Research Council MC_EX_MR/M01424X/1Medical Research Council MC_PC_15018Medical Research Council MC_PC_MR/R020183/1Medical Research Council MC_QA137933Medical Research Council MC_U123292700Medical Research Council MC_UU_00026/3Medical Research Council MC_UU_12012/1Medical Research Council MC_UU_12012/5Medical Research Council MC_UU_12013/1Medical Research Council MC_UU_12013/3Medical Research Council MC_UU_12013/4Medical Research Council MR/L003120/1Medical Research Council MR/L010305/1Medical Research Council MR/L020149/1Medical Research Council MR/N011317/1Medical Research Council MR/P00167X/1Medical Research Council MR/P013880/1Medical Research Council MR/P02811X/1NIDDK NIH HHS R01 DK098032NIDDK NIH HHS U01 DK105535Wellcome Trust 210561/Z/18/Z
Abstract
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.
Indexed as
Genome-Wide Association StudyGenotypePhenotypeCausalityGenetic VariationHumansMolecular EpidemiologyRisk FactorsUnited Kingdom
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.