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

Laura J. Corbin; Vanessa Y. Tan; David A. Hughes; Kaitlin H. Wade; Dirk S. Paul; Katherine E. Tansey; Frances Butcher; Frank Dudbridge; Joanna M. Howson; Momodou W. Jallow; Catherine John; Nathalie Kingston; Cecilia M. Lindgren; Michael O'Donavan; Stephen O'Rahilly; Michael J. Owen; Colin N.A. Palmer; Ewan R. Pearson; Robert A. Scott; David A. Van Heel; John Whittaker; Tim Frayling; Martin D. Tobin; Louise V. Wain; George Davey Smith; David M. Evans; Fredrik Karpe; Mark I. McCarthy; John Danesh; Paul W. Franks; Nicholas J. Timpson

doi:10.1038/s41467-018-03109-y

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

Laura J. Corbin, Vanessa Y. Tan, David A. Hughes, Kaitlin H. Wade, Dirk S. Paul, Katherine E. Tansey, Frances Butcher, Frank Dudbridge, Joanna M. Howson, Momodou W. Jallow, Catherine John, Nathalie Kingston, Cecilia M. Lindgren, Michael O'Donavan, Stephen O'Rahilly, Michael J. Owen, Colin N.A. Palmer, Ewan R. Pearson, Robert A. Scott, David A. Van HeelJohn Whittaker, Tim Frayling, Martin D. Tobin, Louise V. Wain, George Davey Smith, David M. Evans, Fredrik Karpe, Mark I. McCarthy, John Danesh, Paul W. Franks, Nicholas J. Timpson^*

^*Corresponding author for this work

Research output: Contribution to journal › Review article (Academic Journal) › peer-review

46 Citations (Scopus)

319 Downloads (Pure)

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.

Original language	English
Article number	711
Number of pages	11
Journal	Nature Communications
Volume	9
Issue number	1
DOIs	https://doi.org/10.1038/s41467-018-03109-y
Publication status	Published - 19 Feb 2018

Research Groups and Themes

ICEP

Access to Document

10.1038/s41467-018-03109-y

Full-text PDF (final published version)
This is the final published version of the article (version of record). It first appeared online via Nature at https://www.nature.com/articles/s41467-018-03109-y . Please refer to any applicable terms of use of the publisher.
Final published version, 891 KBLicence: CC BY

Handle.net

Persistent link

Cite this

Corbin, L. J., Tan, V. Y., Hughes, D. A., Wade, K. H., Paul, D. S., Tansey, K. E., Butcher, F., Dudbridge, F., Howson, J. M., Jallow, M. W., John, C., Kingston, N., Lindgren, C. M., O'Donavan, M., O'Rahilly, S., Owen, M. J., Palmer, C. N. A., Pearson, E. R., Scott, R. A., ... Timpson, N. J. (2018). Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference. Nature Communications, 9(1), Article 711. https://doi.org/10.1038/s41467-018-03109-y

@article{5c7d2b331e954d4d96d4b6f4410e3b0e,

title = "Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference",

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.",

author = "Corbin, {Laura J.} and Tan, {Vanessa Y.} and Hughes, {David A.} and Wade, {Kaitlin H.} and Paul, {Dirk S.} and Tansey, {Katherine E.} and Frances Butcher and Frank Dudbridge and Howson, {Joanna M.} and Jallow, {Momodou W.} and Catherine John and Nathalie Kingston and Lindgren, {Cecilia M.} and Michael O'Donavan and Stephen O'Rahilly and Owen, {Michael J.} and Palmer, {Colin N.A.} and Pearson, {Ewan R.} and Scott, {Robert A.} and {Van Heel}, {David A.} and John Whittaker and Tim Frayling and Tobin, {Martin D.} and Wain, {Louise V.} and Smith, {George Davey} and Evans, {David M.} and Fredrik Karpe and McCarthy, {Mark I.} and John Danesh and Franks, {Paul W.} and Timpson, {Nicholas J.}",

year = "2018",

month = feb,

day = "19",

doi = "10.1038/s41467-018-03109-y",

language = "English",

volume = "9",

journal = "Nature Communications",

issn = "2041-1723",

publisher = "Springer Nature",

number = "1",

}

Corbin, LJ , Tan, VY, Hughes, DA, Wade, KH, Paul, DS, Tansey, KE, Butcher, F, Dudbridge, F, Howson, JM, Jallow, MW, John, C, Kingston, N, Lindgren, CM, O'Donavan, M, O'Rahilly, S, Owen, MJ, Palmer, CNA, Pearson, ER, Scott, RA, Van Heel, DA, Whittaker, J, Frayling, T, Tobin, MD, Wain, LV, Smith, GD, Evans, DM, Karpe, F, McCarthy, MI, Danesh, J, Franks, PW & Timpson, NJ 2018, 'Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference', Nature Communications, vol. 9, no. 1, 711. https://doi.org/10.1038/s41467-018-03109-y

TY - JOUR

T1 - Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference

AU - Corbin, Laura J.

AU - Tan, Vanessa Y.

AU - Hughes, David A.

AU - Wade, Kaitlin H.

AU - Paul, Dirk S.

AU - Tansey, Katherine E.

AU - Butcher, Frances

AU - Dudbridge, Frank

AU - Howson, Joanna M.

AU - Jallow, Momodou W.

AU - John, Catherine

AU - Kingston, Nathalie

AU - Lindgren, Cecilia M.

AU - O'Donavan, Michael

AU - O'Rahilly, Stephen

AU - Owen, Michael J.

AU - Palmer, Colin N.A.

AU - Pearson, Ewan R.

AU - Scott, Robert A.

AU - Van Heel, David A.

AU - Whittaker, John

AU - Frayling, Tim

AU - Tobin, Martin D.

AU - Wain, Louise V.

AU - Smith, George Davey

AU - Evans, David M.

AU - Karpe, Fredrik

AU - McCarthy, Mark I.

AU - Danesh, John

AU - Franks, Paul W.

AU - Timpson, Nicholas J.

PY - 2018/2/19

Y1 - 2018/2/19

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85042229282&partnerID=8YFLogxK

U2 - 10.1038/s41467-018-03109-y

DO - 10.1038/s41467-018-03109-y

M3 - Review article (Academic Journal)

C2 - 29459775

AN - SCOPUS:85042229282

SN - 2041-1723

VL - 9

JO - Nature Communications

JF - Nature Communications

IS - 1

M1 - 711

ER -

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

Abstract

Research Groups and Themes

Access to Document

Handle.net

Other files and links

Embargoed Document

Fingerprint

MRC UoB UNITE Unit - Programme 1

MRC UoB UNITE Unit - programme 3

CENTRE FOR CASUAL ANALYSES IN TRANSLATIONAL EPIDEMIOLOGY (CAiTE)

Dr Kaitlin H Wade

Cite this

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

Abstract

Research Groups and Themes

Access to Document

Handle.net

Other files and links

Embargoed Document

Fingerprint

Projects

MRC UoB UNITE Unit - Programme 1

MRC UoB UNITE Unit - programme 3

CENTRE FOR CASUAL ANALYSES IN TRANSLATIONAL EPIDEMIOLOGY (CAiTE)

Profiles

Dr Kaitlin H Wade

Cite this