Remove AFR models; EUR-only README and manifest
Browse filesThis view is limited to 50 files because it contains too many changes. See raw diff
- MANIFEST.md5 +0 -234
- README.md +13 -38
- UKB-AFR/trans/AFR+EUR/ADAM15:Q13444:OID20109:v1:Cardiometabolic/loc1.RData +0 -0
- UKB-AFR/trans/AFR+EUR/ADGRE1:Q14246:OID31483:v1:Oncology_II/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/AHSP:Q9NZD4:OID21078:v1:Neurology/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/ALPI:P09923:OID30497:v1:Inflammation_II/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/ALPI:P09923:OID30497:v1:Inflammation_II/loc2.RData +0 -3
- UKB-AFR/trans/AFR+EUR/APOF:Q13790:OID30701:v1:Inflammation_II/loc1.RData +0 -0
- UKB-AFR/trans/AFR+EUR/APOF:Q13790:OID30701:v1:Inflammation_II/loc2.RData +0 -0
- UKB-AFR/trans/AFR+EUR/ARHGAP1:Q07960:OID21202:v1:Oncology/loc1.RData +0 -0
- UKB-AFR/trans/AFR+EUR/ARNT:P27540:OID20432:v1:Inflammation/loc1.RData +0 -0
- UKB-AFR/trans/AFR+EUR/BAMBI:Q13145:OID21267:v1:Oncology/loc1.RData +0 -0
- UKB-AFR/trans/AFR+EUR/BCAM:P50895:OID21076:v1:Neurology/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/CCL11:P51671:OID20668:v1:Inflammation/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/CCL14:Q16627:OID20401:v1:Cardiometabolic/loc1.RData +0 -0
- UKB-AFR/trans/AFR+EUR/CCL25:O15444:OID20674:v1:Inflammation/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/CCL2:P13500:OID21004:v1:Neurology/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/CCL7:P80098:OID20523:v1:Inflammation/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/CD163:Q86VB7:OID20360:v1:Cardiometabolic/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/CD209:Q9NNX6:OID20262:v1:Cardiometabolic/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/CD300A:Q9UGN4:OID30576:v1:Inflammation_II/loc1.RData +0 -0
- UKB-AFR/trans/AFR+EUR/CD70:P32970:OID20599:v1:Inflammation/loc1.RData +0 -0
- UKB-AFR/trans/AFR+EUR/CD86:P42081:OID31500:v1:Oncology_II/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/CDH17:Q12864:OID20134:v1:Cardiometabolic/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/CDH17:Q12864:OID20134:v1:Cardiometabolic/loc2.RData +0 -3
- UKB-AFR/trans/AFR+EUR/CDH1:P12830:OID20353:v1:Cardiometabolic/loc1.RData +0 -0
- UKB-AFR/trans/AFR+EUR/CDH1:P12830:OID20353:v1:Cardiometabolic/loc2.RData +0 -3
- UKB-AFR/trans/AFR+EUR/CDH5:P33151:OID20243:v1:Cardiometabolic/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/CEACAM5:P06731:OID21171:v1:Oncology/loc1.RData +0 -0
- UKB-AFR/trans/AFR+EUR/CLEC1A:Q8NC01:OID20099:v1:Cardiometabolic/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/CLEC4M:Q9H2X3:OID30405:v1:Cardiometabolic_II/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/CRISP3:P54108:OID30715:v1:Inflammation_II/loc1.RData +0 -0
- UKB-AFR/trans/AFR+EUR/CRTAC1:Q9NQ79:OID20279:v1:Cardiometabolic/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/CTRC:Q99895:OID20752:v1:Inflammation/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/CUZD1:Q86UP6:OID30914:v1:Neurology_II/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/CXCL16:Q9H2A7:OID20282:v1:Cardiometabolic/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/DPEP2:Q9H4A9:OID21305:v1:Oncology/loc1.RData +0 -0
- UKB-AFR/trans/AFR+EUR/DSG2:Q14126:OID21113:v1:Neurology/loc1.RData +0 -0
- UKB-AFR/trans/AFR+EUR/DYNLT1:P63172:OID30925:v1:Neurology_II/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/ELOB:Q15370:OID30127:v1:Cardiometabolic_II/loc1.RData +0 -0
- UKB-AFR/trans/AFR+EUR/ENG:P17813:OID20287:v1:Cardiometabolic/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/EPHA4:P54764:OID30622:v1:Inflammation_II/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/F11:P03951:OID30773:v1:Inflammation_II/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/FAM171B:Q6P995:OID31338:v1:Oncology_II/loc1.RData +0 -0
- UKB-AFR/trans/AFR+EUR/FAM171B:Q6P995:OID31338:v1:Oncology_II/loc2.RData +0 -3
- UKB-AFR/trans/AFR+EUR/FAM3D:Q96BQ1:OID31514:v1:Oncology_II/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/FAM3D:Q96BQ1:OID31514:v1:Oncology_II/loc2.RData +0 -3
- UKB-AFR/trans/AFR+EUR/FASLG:P48023:OID20665:v1:Inflammation/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/FLT1:P17948:OID21301:v1:Oncology/loc1.RData +0 -3
- UKB-AFR/trans/AFR+EUR/FUCA1:P04066:OID20261:v1:Cardiometabolic/loc1.RData +0 -3
MANIFEST.md5
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|
| 84 |
-
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|
| 85 |
-
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|
| 86 |
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|
| 87 |
-
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|
| 88 |
-
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|
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-
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|
| 90 |
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|
| 91 |
-
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|
| 92 |
-
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|
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|
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|
| 95 |
-
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
| 127 |
-
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
| 163 |
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|
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|
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|
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-
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|
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|
| 168 |
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|
| 169 |
-
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|
| 170 |
-
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|
| 171 |
-
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|
| 172 |
-
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|
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-
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|
| 174 |
-
4c88fc2a2e2250033cdf396ebcea9d31 UKB-AFR/trans/AFR/HLA-A:P04439:OID31048:v1:Neurology_II/loc1.RData
|
| 175 |
-
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|
| 176 |
-
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|
| 177 |
-
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|
| 178 |
-
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|
| 179 |
-
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|
| 180 |
-
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|
| 181 |
-
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|
| 182 |
-
4d8fc58fa8a961498247f76123222ab2 UKB-AFR/trans/AFR/KLB:Q86Z14:OID20888:v1:Neurology/loc1.RData
|
| 183 |
-
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|
| 184 |
-
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|
| 185 |
-
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|
| 186 |
-
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|
| 187 |
-
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|
| 188 |
-
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|
| 189 |
-
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|
| 190 |
-
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|
| 191 |
-
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|
| 192 |
-
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|
| 193 |
-
0ed26cd2d2df25f3dac2216af8f44f88 UKB-AFR/trans/AFR/MEP1A:Q16819:OID31459:v1:Oncology_II/loc1.RData
|
| 194 |
-
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|
| 195 |
-
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|
| 196 |
-
074d2bfaa8dde12c06fab2280b55ee54 UKB-AFR/trans/AFR/MST1:P26927:OID30713:v1:Inflammation_II/loc1.RData
|
| 197 |
-
ef6c4867c48dd05ae74769969384b362 UKB-AFR/trans/AFR/MST1:P26927:OID30713:v1:Inflammation_II/loc2.RData
|
| 198 |
-
13f7b3c2ccace89cd77a4c968b13b113 UKB-AFR/trans/AFR/MUC2:Q02817:OID30377:v1:Cardiometabolic_II/loc1.RData
|
| 199 |
-
0748693e280103db4aa5124e03556aa0 UKB-AFR/trans/AFR/MUC2:Q02817:OID30377:v1:Cardiometabolic_II/loc2.RData
|
| 200 |
-
dea99dad474b03d25a09d472e99074b1 UKB-AFR/trans/AFR/NOMO1:Q15155:OID21106:v1:Neurology/loc1.RData
|
| 201 |
-
a293614c7e4829745a08343abbfef7d5 UKB-AFR/trans/AFR/NOTCH1:P46531:OID20311:v1:Cardiometabolic/loc1.RData
|
| 202 |
-
4ed1dfd30b28ca9961f7fcb98ae9d97d UKB-AFR/trans/AFR/NOTCH2:Q04721:OID30407:v1:Cardiometabolic_II/loc1.RData
|
| 203 |
-
4e48652e6be51259b9afaf906a73cef4 UKB-AFR/trans/AFR/PCDH17:O14917:OID20132:v1:Cardiometabolic/loc1.RData
|
| 204 |
-
98abeae9aec796a7b27278e0543eb1a7 UKB-AFR/trans/AFR/PEAR1:Q5VY43:OID20257:v1:Cardiometabolic/loc1.RData
|
| 205 |
-
9967b0e38c77fb1c8af7654bbedf5af0 UKB-AFR/trans/AFR/PECAM1:P16284:OID21131:v1:Neurology/loc1.RData
|
| 206 |
-
91bfd35d48762643fd6264d9e96c9acf UKB-AFR/trans/AFR/PILRA:Q9UKJ1:OID21129:v1:Neurology/loc1.RData
|
| 207 |
-
d818a91e4d41e6d3e6ffb8361a62916c UKB-AFR/trans/AFR/PILRB:Q9UKJ0:OID20197:v1:Cardiometabolic/loc1.RData
|
| 208 |
-
018d2a555e352c108aa2b7e733622d57 UKB-AFR/trans/AFR/PLAU:P00749:OID21124:v1:Neurology/loc1.RData
|
| 209 |
-
6434ab84f5188d3446909086c4831c2d UKB-AFR/trans/AFR/PODXL:O00592:OID21358:v1:Oncology/loc1.RData
|
| 210 |
-
3966d267ea4b84549f0bd153af8b617a UKB-AFR/trans/AFR/PROC:P04070:OID20402:v1:Cardiometabolic/loc1.RData
|
| 211 |
-
ecfb0ecf9d0f3165745be24396d4ff02 UKB-AFR/trans/AFR/PRSS27:Q9BQR3:OID20212:v1:Cardiometabolic/loc1.RData
|
| 212 |
-
b030814576553a29fa7b96d48e832028 UKB-AFR/trans/AFR/PRSS27:Q9BQR3:OID20212:v1:Cardiometabolic/loc2.RData
|
| 213 |
-
95ee81c90d1e0f49d33004dad62645f4 UKB-AFR/trans/AFR/PTPRB:P23467:OID30324:v1:Cardiometabolic_II/loc1.RData
|
| 214 |
-
4a25557017860f07a1ab4407e40d1a9a UKB-AFR/trans/AFR/PTPRM:P28827:OID20598:v1:Inflammation/loc1.RData
|
| 215 |
-
59f197dd8bd8cca35b0267efb0a1b05c UKB-AFR/trans/AFR/PYDC1:Q8WXC3:OID30202:v1:Cardiometabolic_II/loc1.RData
|
| 216 |
-
a24fe429e5250d954ef3a2acd29a523b UKB-AFR/trans/AFR/ROBO4:Q8WZ75:OID30226:v1:Cardiometabolic_II/loc1.RData
|
| 217 |
-
519fde13b5e7685e13a981f870efdc64 UKB-AFR/trans/AFR/SELE:P16581:OID20290:v1:Cardiometabolic/loc1.RData
|
| 218 |
-
723fa4cc4664779a43e88a8806ce23eb UKB-AFR/trans/AFR/SELE:P16581:OID20290:v1:Cardiometabolic/loc2.RData
|
| 219 |
-
ab4415f45464d518c8d728a2d1503800 UKB-AFR/trans/AFR/SEMA3G:Q9NS98:OID30599:v1:Inflammation_II/loc1.RData
|
| 220 |
-
474178556c4c461521c920f700b44fa4 UKB-AFR/trans/AFR/SERPIND1:P05546:OID30767:v1:Inflammation_II/loc1.RData
|
| 221 |
-
60307f09cad3ad7b1726d09f5738a0c2 UKB-AFR/trans/AFR/SERPINI2:O75830:OID31504:v1:Oncology_II/loc1.RData
|
| 222 |
-
62cca7718bcea8ece0feca9868b69334 UKB-AFR/trans/AFR/SERPINI2:O75830:OID31504:v1:Oncology_II/loc2.RData
|
| 223 |
-
3e15736ccea4226327d24b42997de861 UKB-AFR/trans/AFR/SMPDL3A:Q92484:OID20676:v1:Inflammation/loc1.RData
|
| 224 |
-
f92c86827e4ab540d53b58665636a30c UKB-AFR/trans/AFR/SNAP25:P60880:OID30811:v1:Neurology_II/loc1.RData
|
| 225 |
-
78de370319f8684edd7987d1246df8a1 UKB-AFR/trans/AFR/SPINT1:O43278:OID21109:v1:Neurology/loc1.RData
|
| 226 |
-
4e81b784ae61a70f788453b0841db5f9 UKB-AFR/trans/AFR/SPINT1:O43278:OID21109:v1:Neurology/loc2.RData
|
| 227 |
-
9a7e45e1d3a5ea0567df18d5a7c20d57 UKB-AFR/trans/AFR/STX3:Q13277:OID31090:v1:Neurology_II/loc1.RData
|
| 228 |
-
7f0925079fc6b4f93bf9421125f82da4 UKB-AFR/trans/AFR/TCN2:P20062:OID20341:v1:Cardiometabolic/loc1.RData
|
| 229 |
-
b1debbcfd29c78a1d4f26fdf36367e42 UKB-AFR/trans/AFR/TEK:Q02763:OID21496:v1:Oncology/loc1.RData
|
| 230 |
-
db428e0154d0f02edaeaa1ebfe132f51 UKB-AFR/trans/AFR/TIE1:P35590:OID20303:v1:Cardiometabolic/loc1.RData
|
| 231 |
-
19d282a5257bd96d08aa87699109b756 UKB-AFR/trans/AFR/TOP1:P11387:OID31449:v1:Oncology_II/loc1.RData
|
| 232 |
-
85b7598f9f7a2ec09e385520854c7ed5 UKB-AFR/trans/AFR/TREM2:Q9NZC2:OID20731:v1:Inflammation/loc1.RData
|
| 233 |
-
48696013d6d1d343d8272e8925c204e6 UKB-AFR/trans/AFR/VSTM2L:Q96N03:OID20067:v1:Cardiometabolic/loc1.RData
|
| 234 |
-
8c48a4c9b42cc76f219b84ce803430c8 UKB-AFR/trans/AFR/VWF:P04275:OID20256:v1:Cardiometabolic/loc1.RData
|
| 235 |
258248563d750ca5a3c67ef149655f0f UKB-EUR/CisTrans/A1BG.RData
|
| 236 |
53ab1b15d09e1669fb3beba2720ef8ad UKB-EUR/CisTrans/AAMDC.RData
|
| 237 |
4152f7963cc15f95112ba871e8cf9311 UKB-EUR/CisTrans/AARSD1.RData
|
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| 1 |
258248563d750ca5a3c67ef149655f0f UKB-EUR/CisTrans/A1BG.RData
|
| 2 |
53ab1b15d09e1669fb3beba2720ef8ad UKB-EUR/CisTrans/AAMDC.RData
|
| 3 |
4152f7963cc15f95112ba871e8cf9311 UKB-EUR/CisTrans/AARSD1.RData
|
README.md
CHANGED
|
@@ -12,26 +12,22 @@ tags:
|
|
| 12 |
|
| 13 |
# PRISM-models
|
| 14 |
|
| 15 |
-
Protein imputation models trained on UK Biobank Pharma Proteomics Project (UKB-PPP, Olink) data
|
| 16 |
-
protein-wide association studies with GWAS summary statistics.
|
| 17 |
-
per-SNP association table, and the reference LD matrix.
|
| 18 |
|
| 19 |
**Version 2026-10-09** (all trans loci retrained, see below).
|
| 20 |
|
| 21 |
-
| path |
|
| 22 |
-
|---|---|---|
|
| 23 |
-
| `UKB-EUR/CisTrans/<protein>.RData` |
|
| 24 |
-
| `UKB-AFR/trans/AFR/<CASE>/loc<N>.RData` | African | one trans locus, AFR-only model (6+0) | 117 loci in 104 proteins |
|
| 25 |
-
| `UKB-AFR/trans/AFR+EUR/<CASE>/loc<N>.RData` | African | the same locus, AFR + EUR transfer model (6+6) | 117 |
|
| 26 |
|
| 27 |
-
`<protein>` is the Olink assay symbol
|
| 28 |
-
loci are `trained = FALSE` placeholders: they share no SNP with any EUR trans locus, or their protein has
|
| 29 |
-
no EUR trans model.
|
| 30 |
|
| 31 |
## What changed in this version
|
| 32 |
|
| 33 |
-
1. **Effect allele fixed; all 12,197
|
| 34 |
-
|
| 35 |
however, came from a frequency run restricted to each measurement batch, where PLINK re-picks the
|
| 36 |
minor allele. For variants with MAF ≈ 0.48–0.5 the two disagree, so `A1` named the wrong allele in
|
| 37 |
280,588 table rows (at least one such variant in 11,433 loci). Labels now come from the genotype
|
|
@@ -40,8 +36,6 @@ no EUR trans model.
|
|
| 40 |
were never affected.
|
| 41 |
2. **PPP1R12A trans locus 2 is now included.** A transient file-system error had silently skipped it.
|
| 42 |
3. **GRCh38 positions added.** `ss` has a `POS.38` (GRCh38) column next to `BP` (GRCh37).
|
| 43 |
-
4. **AFR trans models retrained** against the corrected EUR models, which act as the exterior members
|
| 44 |
-
of the 6+6 transfer model.
|
| 45 |
|
| 46 |
Already in the previous release and kept here: trans loci are at most 3 Mb wide, cut to ± 1.5 Mb around
|
| 47 |
the lead SNP (largest |Z|). Positions come from the repaired GRCh38 rsID map (1,726 rows of the UKB-PPP
|
|
@@ -49,24 +43,19 @@ release had lifted to another chromosome).
|
|
| 49 |
|
| 50 |
## How the models were built
|
| 51 |
|
| 52 |
-
- **
|
| 53 |
residualised phenotypes. Trans SNPs have P < 5e-8 / 2,923 and lie outside the gene ± 1 Mb; the MHC is
|
| 54 |
removed. The SNPs are clumped against 1000 Genomes EUR and merged into loci on GRCh38. Each locus is
|
| 55 |
trained as a SUMMIT ensemble (ElNet, LASSO, MCP, MNet, SCAD at six clumping levels
|
| 56 |
r² ∈ {0.01, 0.05, 0.1, 0.2, 0.5, 0.9}, with PUMAS subsampling), combined into one omnibus weight. LD
|
| 57 |
comes from 49,341 UK Biobank EUR individuals.
|
| 58 |
-
- **
|
| 59 |
block-diagonally; a SNP that appears in several loci is kept in the first one only (cis first).
|
| 60 |
-
- **AFR trans loci.** The loci come from the UKB-PPP AFR summary statistics, clumped against
|
| 61 |
-
1000 Genomes AFR. Each locus gets six local elastic nets (one per clumping level), trained on about
|
| 62 |
-
1,100 AFR individuals with genotypes and phenotypes. These are stacked by NNLS, either alone (6+0) or
|
| 63 |
-
together with the six members of the EUR trans model matched by rsID (6+6). Over the 110 trained loci,
|
| 64 |
-
mean held-out R² is 0.077 for the 6+6 models and 0.079 for 6+0, so we ship both.
|
| 65 |
|
| 66 |
## File contents
|
| 67 |
|
| 68 |
-
|
| 69 |
-
|
| 70 |
|
| 71 |
| object | content |
|
| 72 |
|---|---|
|
|
@@ -80,25 +69,11 @@ the locus's PUMAS R² (the same for every SNP in a locus), so a protein's total
|
|
| 80 |
In 14 files, tagged `uppertri-v1-sym`, the full LD matrix differed from its transpose by a few ULP. Their
|
| 81 |
upper triangle is stored as is and mirrored on load.
|
| 82 |
|
| 83 |
-
**`UKB-AFR/trans`.** These files store the full `matrix.LD`; load them with plain `load()`.
|
| 84 |
-
|
| 85 |
-
| object | content |
|
| 86 |
-
|---|---|
|
| 87 |
-
| `weight` | member weights, S × 6 (AFR) or S × 12 (AFR+EUR) |
|
| 88 |
-
| `CHECKED` | `alpha` (NNLS stacking weight), `robust`, `used`; omnibus weight = `weight %*% CHECKED$alpha` |
|
| 89 |
-
| `ss` | `SNP ID CHR POS.38 BP A1 A2 MAF BETA SE P N CIS LOCI POP Z` |
|
| 90 |
-
| `matrix.LD` | LD matrix, AFR reference |
|
| 91 |
-
| `R2.PUMAS`, `cv.performance` | held-out R² |
|
| 92 |
-
| other | `trained protein CASE POP LOCI CHR cis batch N.train eur.loci CLUMPING eur.overlay eur.loci.overlay` |
|
| 93 |
-
|
| 94 |
## Loading (R)
|
| 95 |
|
| 96 |
```r
|
| 97 |
source("load-model-slim.r")
|
| 98 |
m <- load_model_slim("UKB-EUR/CisTrans/A1BG.RData") # m$weight, m$ss, m$matrix.LD (rebuilt)
|
| 99 |
-
|
| 100 |
-
e <- new.env()
|
| 101 |
-
load("UKB-AFR/trans/AFR+EUR/VWF:P04275:OID20256:v1:Cardiometabolic/loc1.RData", envir = e)
|
| 102 |
```
|
| 103 |
|
| 104 |
`MANIFEST.md5` lists the md5 of every model file; check it with `md5sum -c MANIFEST.md5`.
|
|
|
|
| 12 |
|
| 13 |
# PRISM-models
|
| 14 |
|
| 15 |
+
Protein imputation models trained on UK Biobank Pharma Proteomics Project (UKB-PPP, Olink) data from
|
| 16 |
+
European-ancestry participants, for protein-wide association studies with GWAS summary statistics.
|
| 17 |
+
Each model holds SNP weights, the per-SNP association table, and the reference LD matrix.
|
| 18 |
|
| 19 |
**Version 2026-10-09** (all trans loci retrained, see below).
|
| 20 |
|
| 21 |
+
| path | what one file is | count |
|
| 22 |
+
|---|---|---|
|
| 23 |
+
| `UKB-EUR/CisTrans/<protein>.RData` | one protein: its cis locus + all its trans loci, merged | 2,877 proteins (2,063 cis + trans, 739 cis only, 75 trans only; 12,197 trans loci) |
|
|
|
|
|
|
|
| 24 |
|
| 25 |
+
`<protein>` is the Olink assay symbol.
|
|
|
|
|
|
|
| 26 |
|
| 27 |
## What changed in this version
|
| 28 |
|
| 29 |
+
1. **Effect allele fixed; all 12,197 trans loci retrained.** In our GWAS (PLINK 1.9 `--assoc` on all
|
| 30 |
+
52,253 participants), BETA refers to the minor allele of the full sample. The `A1`/`A2` labels,
|
| 31 |
however, came from a frequency run restricted to each measurement batch, where PLINK re-picks the
|
| 32 |
minor allele. For variants with MAF ≈ 0.48–0.5 the two disagree, so `A1` named the wrong allele in
|
| 33 |
280,588 table rows (at least one such variant in 11,433 loci). Labels now come from the genotype
|
|
|
|
| 36 |
were never affected.
|
| 37 |
2. **PPP1R12A trans locus 2 is now included.** A transient file-system error had silently skipped it.
|
| 38 |
3. **GRCh38 positions added.** `ss` has a `POS.38` (GRCh38) column next to `BP` (GRCh37).
|
|
|
|
|
|
|
| 39 |
|
| 40 |
Already in the previous release and kept here: trans loci are at most 3 Mb wide, cut to ± 1.5 Mb around
|
| 41 |
the lead SNP (largest |Z|). Positions come from the repaired GRCh38 rsID map (1,726 rows of the UKB-PPP
|
|
|
|
| 43 |
|
| 44 |
## How the models were built
|
| 45 |
|
| 46 |
+
- **Trans loci.** We ran the pQTL GWAS ourselves on individual-level UKB-PPP data: 2,923 proteins,
|
| 47 |
residualised phenotypes. Trans SNPs have P < 5e-8 / 2,923 and lie outside the gene ± 1 Mb; the MHC is
|
| 48 |
removed. The SNPs are clumped against 1000 Genomes EUR and merged into loci on GRCh38. Each locus is
|
| 49 |
trained as a SUMMIT ensemble (ElNet, LASSO, MCP, MNet, SCAD at six clumping levels
|
| 50 |
r² ∈ {0.01, 0.05, 0.1, 0.2, 0.5, 0.9}, with PUMAS subsampling), combined into one omnibus weight. LD
|
| 51 |
comes from 49,341 UK Biobank EUR individuals.
|
| 52 |
+
- **Cis loci.** These are the BLISS UKB cis models for 2,802 proteins. Cis and trans loci are merged
|
| 53 |
block-diagonally; a SNP that appears in several loci is kept in the first one only (cis first).
|
|
|
|
|
|
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| 54 |
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| 55 |
## File contents
|
| 56 |
|
| 57 |
+
The files use a slim format: only the upper triangle of the LD matrix is stored. Load them with
|
| 58 |
+
`load-model-slim.r`.
|
| 59 |
|
| 60 |
| object | content |
|
| 61 |
|---|---|
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| 69 |
In 14 files, tagged `uppertri-v1-sym`, the full LD matrix differed from its transpose by a few ULP. Their
|
| 70 |
upper triangle is stored as is and mirrored on load.
|
| 71 |
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| 72 |
## Loading (R)
|
| 73 |
|
| 74 |
```r
|
| 75 |
source("load-model-slim.r")
|
| 76 |
m <- load_model_slim("UKB-EUR/CisTrans/A1BG.RData") # m$weight, m$ss, m$matrix.LD (rebuilt)
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| 77 |
```
|
| 78 |
|
| 79 |
`MANIFEST.md5` lists the md5 of every model file; check it with `md5sum -c MANIFEST.md5`.
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UKB-AFR/trans/AFR+EUR/ADAM15:Q13444:OID20109:v1:Cardiometabolic/loc1.RData
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