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
;
+21 more...
Catherine
John
;
Nathalie
Kingston
;
Cecilia M
Lindgren
;
Michael
O'Donavan
;
Stephen
O'Rahilly
;
Michael J
Owen
;
Colin NA
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
;
(2018)
Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.
Nature communications, 9 (1).
711-.
ISSN 2041-1723
DOI: 10.1038/s41467-018-03109-y
;
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
;
+21 more...
Catherine
John
;
Nathalie
Kingston
;
Cecilia M
Lindgren
;
Michael
O'Donavan
;
Stephen
O'Rahilly
;
Michael J
Owen
;
Colin NA
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
;
(2018)
Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.
Nature communications, 9 (1).
711-.
ISSN 2041-1723
DOI: 10.1038/s41467-018-03109-y
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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