scispace - formally typeset
Open AccessJournal ArticleDOI

A reference panel of 64,976 haplotypes for genotype imputation

Shane A. McCarthy, +117 more
- 22 Aug 2016 - 
- Vol. 48, Iss: 10, pp 1279-1283
Reads0
Chats0
TLDR
A reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry leads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase in the number of SNPs tested in association studies.
Abstract
We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase in the number of SNPs tested in association studies, and it can help to discover and refine causal loci. We describe remote server resources that allow researchers to carry out imputation and phasing consistently and efficiently.

read more

Content maybe subject to copyright    Report

Edinburgh Research Explorer
A reference panel of 64,976 haplotypes for genotype imputation
Citation for published version:
Mccarthy, S, Das, S, Kretzschmar, W, Delaneau, O, Wood, AR, Teumer, A, Kang, HM, Fuchsberger, C,
Danecek, P, Sharp, K, Luo, Y, Sidore, C, Kwong, A, Timpson, N, Koskinen, S, Vrieze, S, Scott, LJ, Zhang,
H, Mahajan, A, Veldink, J, Peters, U, Pato, C, Van Duijn, CM, Gillies, CE, Gandin, I, Mezzavilla, M, Gilly, A,
Cocca, M, Traglia, M, Angius, A, Barrett, JC, Boomsma, D, Branham, K, Breen, G, Brummett, CM,
Busonero, F, Campbell, H, Chan, A, Chen, S, Chew, E, Collins, FS, Corbin, LJ, Smith, GD, Dedoussis, G,
Dorr, M, Farmaki, A, Ferrucci, L, Forer, L, Fraser, RM, Gabriel, S, Levy, S, Groop, L, Harrison, T, Hattersley,
A, Holmen, OL, Hveem, K, Kretzler, M, Lee, JC, Mcgue, M, Meitinger, T, Melzer, D, Min, JL, Mohlke, KL,
Vincent, JB, Nauck, M, Nickerson, D, Palotie, A, Pato, M, Pirastu, N, Mcinnis, M, Richards, JB, Sala, C,
Salomaa, V, Schlessinger, D, Schoenherr, S, Slagboom, PE, Small, K, Spector, T, Stambolian, D, Tuke, M,
Tuomilehto, J, Van Den Berg, LH, Van Rheenen, W, Volker, U, Wijmenga, C, Toniolo, D, Zeggini, E,
Gasparini, P, Sampson, MG, Wilson, JF, Frayling, T, De Bakker, PIW, Swertz, MA, Mccarroll, S,
Kooperberg, C, Dekker, A, Altshuler, D, Willer, C, Iacono, W, Ripatti, S, Soranzo, N, Walter, K, Swaroop, A,
Cucca, F, Anderson, CA, Myers, RM, Boehnke, M, Mccarthy, MI, Durbin, R, Abecasis, G & Marchini, J
2016, 'A reference panel of 64,976 haplotypes for genotype imputation', Nature Genetics, vol. 48, no. 10,
pp. 1279-1283. https://doi.org/10.1038/ng.3643
Digital Object Identifier (DOI):
10.1038/ng.3643
Link:
Link to publication record in Edinburgh Research Explorer
Document Version:
Peer reviewed version
Published In:
Nature Genetics
General rights
Copyright for the publications made accessible via the Edinburgh Research Explorer is retained by the author(s)
and / or other copyright owners and it is a condition of accessing these publications that users recognise and
abide by the legal requirements associated with these rights.
Take down policy
The University of Edinburgh has made every reasonable effort to ensure that Edinburgh Research Explorer
content complies with UK legislation. If you believe that the public display of this file breaches copyright please
contact openaccess@ed.ac.uk providing details, and we will remove access to the work immediately and
investigate your claim.
Download date: 26. Aug. 2022

A"reference"panel"of"64,976"haplotypes"for"genotype"imputation"
"
!"#$%&'()#*+",
-.
/&!#,#$+#$&0#1
2/3.
/&4#**%$&5*%+61("7#*
8.
/&9:;<;%*&0%:#$%#=
>
/&
?$@*%A&BC&4DD@
E
/&?:%F#$@%*&G%=7%*
H/I
/&J,=$&';$&5#$K
2/3
/&)"*;1+;#$&
L=("1M%*K%*
2/3
/&N%+*&0#$%(%O
P
/&5%<;$&!"#*Q
-R
/&S#$K&T=D
-
/&)#*:D&!;@D*%
--
/&?:#$&
5AD$K
2/3
/&U;("D:#1&G;7Q1D$
-2
/&!%QQD&5D1O;$%$
-3
/&!(D++&V*;%6%
-8/->
/&T#=*#&WC&
!(D++
2/3
/&J%&X"#$K
-E
/&?$=M"#&'#"#Y#$
8
/&W#$&V%:@;$O
-H
/&Z:*;O%&N%+%*1
-I/-P
/&)#*:D1&
N#+D
2R
/&)D*$%:;#&'C&<#$&0=;Y$
2-
/&&)"*;1+DQ"%*&[C&\;::;%1
22
/&]:#*;#&\#$@;$
23
/&'#11;7D&
'%66#<;::#
28
/&?*+"=*&\;::,
-
/&'#11;7;:;#$D&)D((#
2>
/&';("%:#&G*#K:;#
2>
/&?$@*%#&
?$K;=1
>
/&W%^^*%,&_#**%++
-
/&0D**%+&]C&_DD717#
2E
/&5#*;&_*#$"#7
2H
/&\%*D7%&
_*%%$
2I/2P
/&)"#@&_*=77%+
3R
/&L#M;D&_=1D$%*D
--
/&J#**,&)#7QM%::
3-
/&?$@*%A&
)"#$
32/33
/&!#;&)"%$
2/3/38/3>
/&[7;:,&)"%A
3E
/&L*#$(;1&!C&)D::;$1
3H
/&T#=*#&)D*M;$
-2
/&
\%D*K%&0#<%,&!7;+"
-2
/&\%D*K%&0%@D=11;1
3I
/&'#*(=1&0D**
3P/8R
/&?:;O;`[:%$;&
L#*7#O;
3I
/&T=;K;&L%**=((;
8-
/&T=O#1&LD*%*
82
/&BD11&'C&L*#1%*
3-
/&!+#(%,&\#M*;%:
83
/&
!"#A$&T%<,
88
/&T%;^&\*DDQ
8>/8E/8H
/&G#M;+"#&J#**;1D$
-I
/&?$@*%A&J#++%*1:%,
8I
/&
9@@K%;*&TC&JD:7%$
8P
/&5*;1+;#$&J<%%7
8P
/&'#++";#1&5*%+6:%*
38C3>/>R
&/&W#7%1&T%%
>-/>2
/&
'#++&'(\=%
>3
/&G"D7#1&'%;+;$K%*
>8C>>
/&0#<;@&'%:6%*
>E
/&WD1;$%&';$
-2
/&5#*%$&TC&
'D":O%
>H
/&WD"$&V;$(%$+
>IC>PCER
/&'#++";#1&U#=(O
I/8R
/&0%MD*#"&U;(O%*1D$
E-
/&?#*$D&
N#:D+;%
83/E-/E2
/&';("%:%&N#+D
2R
/&U;(D:#&N;*#1+=
23
/&'%:<;$&'(]$$;1
E3
/&_*%$+&
B;("#*@1
E8
/&);$6;#&!#:#
2>
/&V%;OOD&!#:D7##
-3
/&0#<;@&!(":%11;$K%*
E>/EE/EH
/&!%M#1+;#$&
!("D%$"%%*
82
/&N&[:;$%&!:#KMDD7
EI
/&5%**;$&!7#::
EP
/&G;7D+",&!Q%(+D*
EP
/&0A;K"+&
!+#7MD:;#$
HR
/&'#*(=1&G=O%
E
/&W##OOD&G=D7;:%"+D
H-`H8
/&T%D$#*@&V#$&@%$&_%*K
-H
/&
4D=+%*&V#$&B"%%$%$
-H
/&ZA%&VD:O%*
8R/H>
/&);1(#&4;Y7%$K#
HE
/&0#$;%:#&GD$;D:D
2>
/&
[:%^+"%*;#&X%KK;$;
-
/&N#D:D&\#1Q#*;$;
23/HH
/&'#++"%A&\C&!#7Q1D$
22
/&W#7%1&LC&
4;:1D$
3-/HI
/&G;7D+",&L*#,:;$K
E
/&N#=:&@%&_#OO%*
HP/IR
/&'D**;1&?C&!A%*+6
HE/I-
/&!+%<%$&
'()#**D::
I2/I3
/&)"#*:%1&5DDQ%*M%*K
-I
/&?$$%:D+&0%OO%*
-H
/&0#<;@&?:+1"=:%*
83/I3`IH
&/&
)*;1+%$&4;::%*
-E/38`3>
/&4;::;#7&]#(D$D
>3
/&!#7=:;&B;Q#++;
II
/&U;(D:%&!D*#$6D
-
/&5:#=@;#&
4#:+%*
-
/&?$#$@&!A#*DDQ
IP
/&L*#$(%1(D&)=((#
--
/&)#*:&?$@%*1D$
-
/&';("#%:&
_D%"$O%
2/3
/&'#*O&]C&'()#*+",
8/PR/P-
/&B;("#*@&0=*M;$
-..
/&\D$a#:D&?M%(#1;1
2/3..
/&
WD$#+"#$&'#*(";$;
-R/8..
/&^D*&+"%&J#Q:D+,Q%&B%^%*%$(%&)D$1D*+;=7C&
&
.&
+"%1%&#=+"D*1&1"D=:@&M%&(D$1;@%*&YD;$+&^;*1+&#=+"D*&D$&+";1&Q#Q%*&
..
&+"%1%&#=+"D*1&YD;$+:,&1=Q%*<;1%@&+"%&*%1%#*("&

&
?^^;:;#+;D$1&
-C J=7#$&\%$%+;(1/&4%::(D7%&G*=1+&!#$K%*&]$1+;+=+%/&J;$F+D$/&Z5C&
2C 0%Q#*+7%$+&D^&_;D1+#+;1+;(1/&Z$;<%*1;+,&D^&';(";K#$/&?$$&?*MD*/&';(";K#$/&
Z!?C&
3C )%$+%*&^D*&!+#+;1+;(#:&\%$%+;(1&/&Z$;<%*1;+,&D^&';(";K#$/&?$$&?*MD*/&
';(";K#$/&Z!?C&
8C 4%::(D7%&G*=1+&)%$+*%&^D*&J=7#$&\%$%+;(1/&Z$;<%*1;+,&D^&9F^D*@/&9F^D*@/&
Z5C&
>C \%$%+;(1&#$@&0%<%:DQ7%$+/&Z$;<%*1;+,&D^&\%$%<#/&\%$%<#/&!A;+6%*:#$@C&
EC \%$%+;(1&D^&)D7Q:%F&G*#;+1/&]$1+;+=+%&D^&_;D7%@;(#:&!(;%$(%/&Z$;<%*1;+,&D^&
[F%+%*&'%@;(#:&!("DD:/&[F%+%*/&Z5C&
HC ]$1+;+=+%&^D*&)D77=$;+,&'%@;(;$%/&Z$;<%*1;+,&'%@;(;$%&\*%;^1A#:@/&
\%*7#$,C&
IC ]$1+;+=+%&D^&):;$;(#:&)"%7;1+*,&#$@&T#MD*#+D*,&'%@;(;$%/&Z$;<%*1;+,&
'%@;(;$%&\*%;^1A#:@/&\%*7#$,C&
PC V%*+%M*#+%&B%1%b=%$(;$K&]$^D*7#+;(1/&4%::(D7%&G*=1+&!#$K%*&]$1+;+=+%/&
9F^D*@/&Z5C&
-RC 0%Q#*+7%$+&D^&!+#+;1+;(1/&Z$;<%*1;+,&D^&9F^D*@/&9F^D*@/&Z5C&
--C ]B\_/&)UB/&!#*@;$;#/&]+#:,C&
-2C 'B)&]$+%K*#+;<%&[Q;@%7;D:DK,&Z$;+/&Z$;<%*1;+,&D^&_*;1+D:/&9#O^;%:@&\*D<%/&
Z5C&
-3C GJT/&L;$:#$@C&
-8C ]$1+;+=+%&^D*&_%"#<;D*#:&\%$%+;(1/&Z$;<%*1;+,&D^&)D:D*#@D/&_D=:@%*/&
)D:D*#@D/&Z!?C&
->C 0%Q#*+7%$+&D^&N1,("D:DK,&#$@&U%=*D1=*K%*,/&Z$;<%*1;+,&D^&)D:D*#@D/&
_D=:@%*/&)D:D*#@D/&Z!?&
-EC 0%Q#*+7%$+&D^&]$+%*$#:&'%@;(;$%/&0;<;1;D$&D^&)#*@;D<#1(=:#*&'%@;(;$%/&
Z$;<%*1;+,&D^&';(";K#$/&?$$&?*MD*/&';(";K#$/&Z!?C&
-HC 0%Q#*+7%$+&D^&U%=*D:DK,&#$@&U%=*D1=*K%*,/&_*#;$&)%$+%*&B=@D:^&'#K$=1/&
Z+*%("+/&+"%&U%+"%*:#$@1C&
-IC N=M:;(&J%#:+"&!(;%$(%1&0;<;1;D$/&L*%@&J=+(";$1D$&)#$(%*&B%1%#*("&)%$+%*/&
!%#++:%/&4#1";$K+D$/&Z!?C&

-PC 0%Q#*+7%$+&D^&[Q;@%7;D:DK,/&Z$;<%*1;+,&D^&4#1";$K+D$&!("DD:&D^&N=M:;(&
J%#:+"/&!%#++:%/&4#1";$K+D$/&Z!?C&
2RC 0%Q#*+7%$+&D^&N1,(";#+*,/&!ZUS&0DA$1+#+%/&_*DDO:,$/&U%A&SD*O/&Z!?C&
2-C \%$%+;(&[Q;@%7;D:DK,&Z$;+/&0%Q#*+7%$+&D^&[Q;@%7;D:DK,/&[*#17=1')/&
BD++%*@#7/&+"%&U%+"%*:#$@1C&
22C 0%Q#*+7%$+&D^&N%@;#+*;(1`U%Q"*D:DK,/&Z$;<%*1;+,&D^&';(";K#$&!("DD:&D^&
'%@;(;$%/&?$$&?*MD*/&';(";K#$/&Z!?C&
23C 0!'/&Z$;<%*1;+,&D^&G*;%1+%/&G*;%1+%/&]+#:,C&
28C \%$%+;(#&'%@;(#/&]B))!`_=*:D&\#*D^D:D/&G*;%1+%/&]+#:,C&
2>C \%$%+;(1&#$@&)%::&_;D:DK,/&!#$&B#^^#%:%&B%1%#*("&]$1+;+=+%/&';:#$D/&]+#:,C&
2EC 0%Q#*+7%$+&D^&_;D:DK;(#:&N1,("D:DK,/&VZ&?71+%*@#7/&U%=*D1(;%$(%&
)#7Q=1/&?71+%*@#7/&+"%&U%+"%*:#$@1C&
2HC 0%Q#*+7%$+&D^&9Q"+"#:7D:DK,&#$@&V;1=#:&!(;%$(%1/&Z$;<%*1;+,&D^&
';(";K#$/&?$$&?*MD*/&';(";K#$/&Z!?C&
2IC 'B)&!D(;#:&\%$%+;(&#$@&0%<%:DQ7%$+#:&N1,(";#+*,&)%$+*%/&]$1+;+=+%&D^&
N1,(";#+*,/&N1,("D:DK,&c&U%=*D1(;%$(%/&5;$Kd1&)D::%K%/&TD$@D$/&Z5C&
2PC U]JB&_;D7%@;(#:&B%1%#*("&)%$+*%&^D*&'%$+#:&J%#:+"/&]$1+;+=+%&D^&
N1,(";#+*,/&N1,("D:DK,&c&U%=*D1(;%$(%/&5;$Kd1&)D::%K%&TD$@D$&#$@&G"%&
!D=+"&TD$@D$&'#=@1:%,&JD1Q;+#:/&TD$@D$/&Z5C&
3RC 0%Q#*+7%$+&D^&?$%1+"%1;D:DK,/&Z$;<%*1;+,&D^&';(";K#$/&?$$&?*MD*/&
';(";K#$/&Z!?C&
3-C G"%&Z1"%*&]$1+;+=+%&D^&NDQ=:#+;D$&J%#:+"&!(;%$(%1&#$@&]$^D*7#+;(1/&
Z$;<%*1;+,&D^&[@;$M=*K"/&[@;$M=*K"/&Z5C&
32C 0;<;1;D$&D^&\#1+*D%$+%*D:DK,/&'#11#("=1%++1&\%$%*#:&JD1Q;+#:&#$@&
J#*<#*@&'%@;(#:&!("DD:/&_D1+D$/&'#11#("=1%++1/&Z!?C&
33C _*;K"#7&#$@&4D7%$d1&JD1Q;+#:/&)"#$$;$K&0;<;1;D$&D^&U%+AD*O&'%@;(;$%/&
_D1+D$/&'#11#("=1%++1/&Z!?C&
38C 0%Q#*+7%$+&D^&)D7Q=+#+;D$#:&'%@;(;$%/&Z$;<%*1;+,&D^&';(";K#$/&?$$&
?*MD*/&';(";K#$/&Z!?C&
3>C 0%Q#*+7%$+&D^&_;D;$^D*7#+;(1&/&Z$;<%*1;+,&D^&';(";K#$/&?$$&?*MD*/&
';(";K#$/&Z!?C&
3EC 0;<;1;D$&D^&[Q;@%7;D:DK,&#$@&):;$;(#:&?QQ:;(#+;D$1/&U#+;D$#:&[,%&]$1+;+=+%/&
_%+"%1@#/&'#*,:#$@/&Z!?C&

3HC '%@;(#:&\%$D7;(1&#$@&'%+#MD:;(&\%$%+;(1&_*#$("/&U#+;D$#:&J=7#$&
\%$D7%&B%1%#*("&]$1+;+=+%/&U#+;D$#:&]$1+;+=+%1&D^&J%#:+"/&_%+"%1@#/&
'#*,:#$@/&Z!?C&
3IC 0%Q#*+7%$+&D^&U=+*;+;D$&#$@&0;%+%+;(1/&!("DD:&D^&J%#:+"&!(;%$(%&#$@&
[@=(#+;D$/&J#*DODQ;D&Z$;<%*1;+,/&?+"%$1/&\*%%(%C&
3PC 0%Q#*+7%$+&D^&]$+%*$#:&'%@;(;$%&_/&Z$;<%*1;+,&'%@;(;$%&\*%;^1A#:@/&
\%*7#$,C&
8RC 0XJ5&e\%*7#$&)%$+*%&^D*&)#*@;D<#1(=:#*&B%1%#*("f/&\*%;^1A#:@/&
\%*7#$,C&
8-C TD$K;+=@;$#:&!+=@;%1&!%(+;D$/&):;$;(#: & B%1%#*("&_*#$("/&\%*D$+D:DK,&
B%1%#*("&)%$+*%/&U#+;D$#:&]$1+;+=+%&D$&?K;$K/&_#:+;7D*%/&'#*,:#$@/&Z!?C&
82C )%$+%*&^D*&_;D7%@;(;$%/&Z$;<%*1;+,&D^&]$$1M*=(O/&_D:6#$D/&]+#:,C&
83C N*DK*#7&;$&'%@;(#:&#$@&NDQ=:#+;D$&\%$%+;(1/&_*D#@&]$1+;+=+%&D^&']G&#$@&
J#*<#*@/&)#7M*;@K%/&'#11#("=1%++1/&Z!?C&
88C J=@1D$?:Q"#&]$1+;+=+%&^D*&_;D+%("$D:DK,/&J=$+1<;::%/&?:#M#7#/&Z!?C&
8>C 0%Q#*+7%$+&D^&):;$;(#:&!(;%$(%1/&0;#M%+%1&#$@&[$@D(*;$D:DK,/&Z$;<%*1;+,&
D^&T=$@/&'#:7D/&!A%@%$C&
8EC L;$$;1"&]$1+;+=+%&^D*&'D:%(=:#*&'%@;(;$%/& Z$ ;<%*1;+,&D^&J%:1;$O;/&J%:1;$O;/&
L;$:#$@C&
8HC B%1%#*("&N*DK*#71&Z$;+/&0;#M%+%1&#$@&9M%1;+,/&Z$;<%*1;+,&D^&J%:1;$O;/&
J%:1;$O;/&L;$:#$@C&
8IC 0%Q#*+7%$+&D^&0;#M%+%1&#$@&V#1(=:#*&'%@;(;$%/&Z$;<%*1;+,&D^&[F%+%*&
'%@;(#:&!("DD:/&[F%+%*/&Z5C&
8PC J=$+&B%1%#*("&)%$+*%/&0%Q#*+7%$+&D^&N=M:;(&J%#:+"&#$@&\%$%*#:&N*#(+;(%/&
UD*A%K;#$&Z$;<%*1;+,&D^&!(;%$(%&#$@&G%("$D:DK,/&T%<#$K%*/&UD*A#,C&
>RC 0%Q#*+7%$+&D^&]$+%*$#:&'%@;(;$%/&Z$;<%*1;+,&D^&';(";K#$&!("DD:&D^&
'%@;(;$%/&?$$&?*MD*/&';(";K#$/&Z!?C&
>-C )#7M*;@K%&]$1+;+=+%&^D*&'%@;(#:&B%1%#*("/&Z$;<%*1;+,&D^&)#7M*;@K%/&
)#7M*;@K%/&Z5C&
>2C 0%Q#*+7%$+&D^&'%@;(;$%/&Z$;<%*1;+,&D^&)#7M*;@K%&!("DD:&D^&):;$;(#:&
'%@;(;$%/&?@@%$M*DDO%d1&JD1Q;+#:/&)#7M*;@K%/&Z5C&
>3C 0%Q#*+7%$+&D^&N1,("D:DK,/&Z$;<%*1;+,&D^&';$$%1D+#/&';$$%#QD:;1/&
';$$%1D+#/&Z!?C&

Citations
More filters
Journal ArticleDOI

The Immune Landscape of Cancer

TL;DR: An extensive immunogenomic analysis of more than 10,000 tumors comprising 33 diverse cancer types by utilizing data compiled by TCGA identifies six immune subtypes that encompass multiple cancer types and are hypothesized to define immune response patterns impacting prognosis.
Journal ArticleDOI

10 Years of GWAS Discovery: Biology, Function, and Translation

TL;DR: The remarkable range of discoveriesGWASs has facilitated in population and complex-trait genetics, the biology of diseases, and translation toward new therapeutics are reviewed.
Journal ArticleDOI

Clinical use of current polygenic risk scores may exacerbate health disparities.

TL;DR: To realize the full and equitable potential of polygenic risk scores, greater diversity must be prioritized in genetic studies, and summary statistics must be publically disseminated to ensure that health disparities are not increased for those individuals already most underserved.
References
More filters
Journal ArticleDOI

A global reference for human genetic variation.

Adam Auton, +517 more
- 01 Oct 2015 - 
TL;DR: The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and has reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-generation sequencing, deep exome sequencing, and dense microarray genotyping.
Journal ArticleDOI

A second generation human haplotype map of over 3.1 million SNPs

Kelly A. Frazer, +237 more
- 18 Oct 2007 - 
TL;DR: The Phase II HapMap is described, which characterizes over 3.1 million human single nucleotide polymorphisms genotyped in 270 individuals from four geographically diverse populations and includes 25–35% of common SNP variation in the populations surveyed, and increased differentiation at non-synonymous, compared to synonymous, SNPs is demonstrated.
Journal ArticleDOI

A flexible and accurate genotype imputation method for the next generation of genome-wide association studies.

TL;DR: It is found that imputation accuracy can be greatly enhanced by expanding the reference panel to contain thousands of chromosomes and that IMPUTE v2 outperforms other methods in this setting at both rare and common SNPs, with overall error rates that are 15%–20% lower than those of the closest competing method.
Journal ArticleDOI

Genetic Structure of Human Populations

TL;DR: General agreement of genetic and predefined populations suggests that self-reported ancestry can facilitate assessments of epidemiological risks but does not obviate the need to use genetic information in genetic association studies.
Journal ArticleDOI

A new multipoint method for genome-wide association studies by imputation of genotypes

TL;DR: This work proposes a coherent analysis framework that treats the genome-wide association problem as one involving missing or uncertain genotypes, and proposes a model-based imputation method for inferring genotypes at observed or unobserved SNPs, leading to improved power over existing methods for multipoint association mapping.
Related Papers (5)

A global reference for human genetic variation.

Adam Auton, +517 more
- 01 Oct 2015 - 
Trending Questions (1)
What human datasets samples do papers that develop genotype imputation methods use?

Papers developing genotype imputation methods use human datasets samples from predominantly European ancestry, with a reference panel of 64,976 haplotypes at 39,235,157 SNPs.