NotSoSharpDressedMan commited on
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Remove AFR models; EUR-only README and manifest

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  1. MANIFEST.md5 +0 -234
  2. README.md +13 -38
  3. UKB-AFR/trans/AFR+EUR/ADAM15:Q13444:OID20109:v1:Cardiometabolic/loc1.RData +0 -0
  4. UKB-AFR/trans/AFR+EUR/ADGRE1:Q14246:OID31483:v1:Oncology_II/loc1.RData +0 -3
  5. UKB-AFR/trans/AFR+EUR/AHSP:Q9NZD4:OID21078:v1:Neurology/loc1.RData +0 -3
  6. UKB-AFR/trans/AFR+EUR/ALPI:P09923:OID30497:v1:Inflammation_II/loc1.RData +0 -3
  7. UKB-AFR/trans/AFR+EUR/ALPI:P09923:OID30497:v1:Inflammation_II/loc2.RData +0 -3
  8. UKB-AFR/trans/AFR+EUR/APOF:Q13790:OID30701:v1:Inflammation_II/loc1.RData +0 -0
  9. UKB-AFR/trans/AFR+EUR/APOF:Q13790:OID30701:v1:Inflammation_II/loc2.RData +0 -0
  10. UKB-AFR/trans/AFR+EUR/ARHGAP1:Q07960:OID21202:v1:Oncology/loc1.RData +0 -0
  11. UKB-AFR/trans/AFR+EUR/ARNT:P27540:OID20432:v1:Inflammation/loc1.RData +0 -0
  12. UKB-AFR/trans/AFR+EUR/BAMBI:Q13145:OID21267:v1:Oncology/loc1.RData +0 -0
  13. UKB-AFR/trans/AFR+EUR/BCAM:P50895:OID21076:v1:Neurology/loc1.RData +0 -3
  14. UKB-AFR/trans/AFR+EUR/CCL11:P51671:OID20668:v1:Inflammation/loc1.RData +0 -3
  15. UKB-AFR/trans/AFR+EUR/CCL14:Q16627:OID20401:v1:Cardiometabolic/loc1.RData +0 -0
  16. UKB-AFR/trans/AFR+EUR/CCL25:O15444:OID20674:v1:Inflammation/loc1.RData +0 -3
  17. UKB-AFR/trans/AFR+EUR/CCL2:P13500:OID21004:v1:Neurology/loc1.RData +0 -3
  18. UKB-AFR/trans/AFR+EUR/CCL7:P80098:OID20523:v1:Inflammation/loc1.RData +0 -3
  19. UKB-AFR/trans/AFR+EUR/CD163:Q86VB7:OID20360:v1:Cardiometabolic/loc1.RData +0 -3
  20. UKB-AFR/trans/AFR+EUR/CD209:Q9NNX6:OID20262:v1:Cardiometabolic/loc1.RData +0 -3
  21. UKB-AFR/trans/AFR+EUR/CD300A:Q9UGN4:OID30576:v1:Inflammation_II/loc1.RData +0 -0
  22. UKB-AFR/trans/AFR+EUR/CD70:P32970:OID20599:v1:Inflammation/loc1.RData +0 -0
  23. UKB-AFR/trans/AFR+EUR/CD86:P42081:OID31500:v1:Oncology_II/loc1.RData +0 -3
  24. UKB-AFR/trans/AFR+EUR/CDH17:Q12864:OID20134:v1:Cardiometabolic/loc1.RData +0 -3
  25. UKB-AFR/trans/AFR+EUR/CDH17:Q12864:OID20134:v1:Cardiometabolic/loc2.RData +0 -3
  26. UKB-AFR/trans/AFR+EUR/CDH1:P12830:OID20353:v1:Cardiometabolic/loc1.RData +0 -0
  27. UKB-AFR/trans/AFR+EUR/CDH1:P12830:OID20353:v1:Cardiometabolic/loc2.RData +0 -3
  28. UKB-AFR/trans/AFR+EUR/CDH5:P33151:OID20243:v1:Cardiometabolic/loc1.RData +0 -3
  29. UKB-AFR/trans/AFR+EUR/CEACAM5:P06731:OID21171:v1:Oncology/loc1.RData +0 -0
  30. UKB-AFR/trans/AFR+EUR/CLEC1A:Q8NC01:OID20099:v1:Cardiometabolic/loc1.RData +0 -3
  31. UKB-AFR/trans/AFR+EUR/CLEC4M:Q9H2X3:OID30405:v1:Cardiometabolic_II/loc1.RData +0 -3
  32. UKB-AFR/trans/AFR+EUR/CRISP3:P54108:OID30715:v1:Inflammation_II/loc1.RData +0 -0
  33. UKB-AFR/trans/AFR+EUR/CRTAC1:Q9NQ79:OID20279:v1:Cardiometabolic/loc1.RData +0 -3
  34. UKB-AFR/trans/AFR+EUR/CTRC:Q99895:OID20752:v1:Inflammation/loc1.RData +0 -3
  35. UKB-AFR/trans/AFR+EUR/CUZD1:Q86UP6:OID30914:v1:Neurology_II/loc1.RData +0 -3
  36. UKB-AFR/trans/AFR+EUR/CXCL16:Q9H2A7:OID20282:v1:Cardiometabolic/loc1.RData +0 -3
  37. UKB-AFR/trans/AFR+EUR/DPEP2:Q9H4A9:OID21305:v1:Oncology/loc1.RData +0 -0
  38. UKB-AFR/trans/AFR+EUR/DSG2:Q14126:OID21113:v1:Neurology/loc1.RData +0 -0
  39. UKB-AFR/trans/AFR+EUR/DYNLT1:P63172:OID30925:v1:Neurology_II/loc1.RData +0 -3
  40. UKB-AFR/trans/AFR+EUR/ELOB:Q15370:OID30127:v1:Cardiometabolic_II/loc1.RData +0 -0
  41. UKB-AFR/trans/AFR+EUR/ENG:P17813:OID20287:v1:Cardiometabolic/loc1.RData +0 -3
  42. UKB-AFR/trans/AFR+EUR/EPHA4:P54764:OID30622:v1:Inflammation_II/loc1.RData +0 -3
  43. UKB-AFR/trans/AFR+EUR/F11:P03951:OID30773:v1:Inflammation_II/loc1.RData +0 -3
  44. UKB-AFR/trans/AFR+EUR/FAM171B:Q6P995:OID31338:v1:Oncology_II/loc1.RData +0 -0
  45. UKB-AFR/trans/AFR+EUR/FAM171B:Q6P995:OID31338:v1:Oncology_II/loc2.RData +0 -3
  46. UKB-AFR/trans/AFR+EUR/FAM3D:Q96BQ1:OID31514:v1:Oncology_II/loc1.RData +0 -3
  47. UKB-AFR/trans/AFR+EUR/FAM3D:Q96BQ1:OID31514:v1:Oncology_II/loc2.RData +0 -3
  48. UKB-AFR/trans/AFR+EUR/FASLG:P48023:OID20665:v1:Inflammation/loc1.RData +0 -3
  49. UKB-AFR/trans/AFR+EUR/FLT1:P17948:OID21301:v1:Oncology/loc1.RData +0 -3
  50. UKB-AFR/trans/AFR+EUR/FUCA1:P04066:OID20261:v1:Cardiometabolic/loc1.RData +0 -3
MANIFEST.md5 CHANGED
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221
- 60307f09cad3ad7b1726d09f5738a0c2 UKB-AFR/trans/AFR/SERPINI2:O75830:OID31504:v1:Oncology_II/loc1.RData
222
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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
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232
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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
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
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, for
16
- protein-wide association studies with GWAS summary statistics. Each model holds SNP weights, the
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 | ancestry | what one file is | count |
22
- |---|---|---|---|
23
- | `UKB-EUR/CisTrans/<protein>.RData` | European | 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
- | `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; `CASE` is the UKB-PPP id `Gene:UniProt:OID:v1:Panel`. Seven AFR
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 UKB-EUR trans loci retrained.** In our GWAS (PLINK 1.9 `--assoc` on
34
- all 52,253 participants), BETA refers to the minor allele of the full sample. The `A1`/`A2` labels,
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
- - **EUR trans loci.** We ran the pQTL GWAS ourselves on individual-level UKB-PPP data: 2,923 proteins,
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
- - **EUR cis.** These are the BLISS UKB cis models for 2,802 proteins. Cis and trans loci are merged
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
- **`UKB-EUR/CisTrans`.** These files use a slim format: only the upper triangle of the LD matrix is
69
- stored. Load them with `load-model-slim.r`.
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).
 
 
 
 
 
54
 
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
  |---|---|
 
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
 
 
 
 
 
 
 
 
 
 
 
 
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)
 
 
 
77
  ```
78
 
79
  `MANIFEST.md5` lists the md5 of every model file; check it with `md5sum -c MANIFEST.md5`.
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