| Publication Information (EuropePMC) | |
| Title | The Polygenic and Monogenic Basis of Blood Traits and Diseases. |
| PubMed ID | 32888494(Europe PMC) |
| doi | 10.1016/j.cell.2020.08.008 |
| Publication Date | Sept. 1, 2020 |
| Journal | Cell |
| Author(s) | Vuckovic D, Bao EL, Akbari P, Lareau CA, Mousas A, Jiang T, Chen MH, Raffield LM, Tardaguila M, Huffman JE, Ritchie SC, Megy K, Ponstingl H, Penkett CJ, Albers PK, Wigdor EM, Sakaue S, Moscati A, Manansala R, Lo KS, Qian H, Akiyama M, Bartz TM, Ben-Shlomo Y, Beswick A, Bork-Jensen J, Bottinger EP, Brody JA, van Rooij FJA, Chitrala KN, Wilson PWF, Choquet H, Danesh J, Di Angelantonio E, Dimou N, Ding J, Elliott P, Esko T, Evans MK, Felix SB, Floyd JS, Broer L, Grarup N, Guo MH, Guo Q, Greinacher A, Haessler J, Hansen T, Howson JMM, Huang W, Jorgenson E, Kacprowski T, Kähönen M, Kamatani Y, Kanai M, Karthikeyan S, Koskeridis F, Lange LA, Lehtimäki T, Linneberg A, Liu Y, Lyytikäinen LP, Manichaikul A, Matsuda K, Mohlke KL, Mononen N, Murakami Y, Nadkarni GN, Nikus K, Pankratz N, Pedersen O, Preuss M, Psaty BM, Raitakari OT, Rich SS, Rodriguez BAT, Rosen JD, Rotter JI, Schubert P, Spracklen CN, Surendran P, Tang H, Tardif JC, Ghanbari M, Völker U, Völzke H, Watkins NA, Weiss S, VA Million Veteran Program, Cai N, Kundu K, Watt SB, Walter K, Zonderman AB, Cho K, Li Y, Loos RJF, Knight JC, Georges M, Stegle O, Evangelou E, Okada Y, Roberts DJ, Inouye M, Johnson AD, Auer PL, Astle WJ, Reiner AP, Butterworth AS, Ouwehand WH, Lettre G, Sankaran VG, Soranzo N. |
| Polygenic Score ID & Name | PGS Publication ID (PGP) | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants |
Ancestry distribution GWAS Dev Eval |
Scoring File (FTP Link) |
|---|---|---|---|---|---|---|
| PGS000178 (mono_p) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Monocyte percentage of white cells | monocyte percentage of leukocytes | 549 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000178/ScoringFiles/PGS000178.txt.gz |
| PGS000175 (mchc) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Mean corpuscular hemoglobin concentration | mean corpuscular hemoglobin concentration | 224 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000175/ScoringFiles/PGS000175.txt.gz |
| PGS000187 (rbc) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Red blood cell count | erythrocyte count | 678 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000187/ScoringFiles/PGS000187.txt.gz |
| PGS000188 (rdw) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Red cell distribution width | Red cell distribution width | 546 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000188/ScoringFiles/PGS000188.txt.gz |
| PGS000190 (ret_p) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reticulocyte fraction of red cells | reticulocyte count | 537 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000190/ScoringFiles/PGS000190.txt.gz |
| PGS000167 (hct) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Hematocrit | hematocrit | 502 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000167/ScoringFiles/PGS000167.txt.gz |
| PGS000165 (eo) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Eosinophil count | eosinophil count | 607 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000165/ScoringFiles/PGS000165.txt.gz |
| PGS000169 (hlr) |
PGP000078 | Vuckovic D et al. Cell (2020) |
High light scatter reticulocyte count | reticulocyte count | 570 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000169/ScoringFiles/PGS000169.txt.gz |
| PGS000173 (lymph_p) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Lymphocyte percentage of white cells | lymphocyte percentage of leukocytes | 472 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000173/ScoringFiles/PGS000173.txt.gz |
| PGS000176 (mcv) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Mean corpuscular volume | mean corpuscular volume | 685 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000176/ScoringFiles/PGS000176.txt.gz |
| PGS000164 (baso_p) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Basophil percentage of white cells | basophil percentage of leukocytes | 150 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000164/ScoringFiles/PGS000164.txt.gz |
| PGS000171 (irf) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Immature fraction of reticulocytes | reticulocyte count | 372 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000171/ScoringFiles/PGS000171.txt.gz |
| PGS000172 (lymph) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Lymphocyte count | lymphocyte count | 621 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000172/ScoringFiles/PGS000172.txt.gz |
| PGS000166 (eo_p) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Eosinophil percentage of white cells | eosinophil percentage of leukocytes | 571 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000166/ScoringFiles/PGS000166.txt.gz |
| PGS000182 (neut) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Neutrophil count | neutrophil count | 492 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000182/ScoringFiles/PGS000182.txt.gz |
| PGS000183 (neut_p) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Neutrophil percentage of white cells | neutrophil percentage of leukocytes | 437 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000183/ScoringFiles/PGS000183.txt.gz |
| PGS000181 (mscv) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Mean sphered corpuscular volume | mean corpuscular volume | 761 | - - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000181/ScoringFiles/PGS000181.txt.gz |
| PGS000186 (plt) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Platelet count | platelet count | 739 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000186/ScoringFiles/PGS000186.txt.gz |
| PGS000184 (pct) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Platelet crit | platelet crit | 700 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000184/ScoringFiles/PGS000184.txt.gz |
| PGS000170 (hlr_p) |
PGP000078 | Vuckovic D et al. Cell (2020) |
High light scatter reticulocyte percentage of red cells | reticulocyte count | 566 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000170/ScoringFiles/PGS000170.txt.gz |
| PGS000179 (mpv) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Mean platelet volume | mean platelet volume | 654 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000179/ScoringFiles/PGS000179.txt.gz |
| PGS000174 (mch) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Mean corpuscular hemoglobin | mean corpuscular hemoglobin | 628 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000174/ScoringFiles/PGS000174.txt.gz |
| PGS000177 (mono) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Monocyte count | monocyte count | 638 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000177/ScoringFiles/PGS000177.txt.gz |
| PGS000180 (mrv) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Mean reticulocyte volume | mean reticulocyte volume | 629 | - - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000180/ScoringFiles/PGS000180.txt.gz |
| PGS000185 (pdw) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Platelet distribution width | platelet component distribution width | 555 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000185/ScoringFiles/PGS000185.txt.gz |
| PGS000189 (ret) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reticulocyte count | reticulocyte count | 555 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000189/ScoringFiles/PGS000189.txt.gz |
| PGS000163 (baso) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Basophil count | basophil count | 185 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000163/ScoringFiles/PGS000163.txt.gz |
| PGS000168 (hgb) |
PGP000078 | Vuckovic D et al. Cell (2020) |
Hemoglobin concentration | hemoglobin measurement | 515 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000168/ScoringFiles/PGS000168.txt.gz |
| PGS000191 (wbc) |
PGP000078 | Vuckovic D et al. Cell (2020) |
White blood cell count | leukocyte count | 636 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000191/ScoringFiles/PGS000191.txt.gz |
|
PGS Performance Metric ID (PPM) |
Evaluated Score |
PGS Sample Set ID (PSS) |
Performance Source | Trait |
PGS Effect Sizes (per SD change) |
Classification Metrics | Other Metrics | Covariates Included in the Model |
PGS Performance: Other Relevant Information |
|---|---|---|---|---|---|---|---|---|---|
| PPM000547 | PGS000165 (eo) |
PSS000290| European Ancestry| 2,314 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Eosinophil count | — | — | R²: 0.06931 | sex, age, 10 genetic PCs | — |
| PPM000560 | PGS000191 (wbc) |
PSS000290| European Ancestry| 2,314 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: White blood cell count | — | — | R²: 0.06336 | sex, age, 10 genetic PCs | — |
| PPM000559 | PGS000188 (rdw) |
PSS000290| European Ancestry| 2,314 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Red cell distribution width | — | — | R²: 0.07409 | sex, age, 10 genetic PCs | — |
| PPM000558 | PGS000187 (rbc) |
PSS000290| European Ancestry| 2,314 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Red blood cell count | — | — | R²: 0.06798 | sex, age, 10 genetic PCs | — |
| PPM000557 | PGS000186 (plt) |
PSS000290| European Ancestry| 2,314 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Platelet count | — | — | R²: 0.16049 | sex, age, 10 genetic PCs | — |
| PPM000556 | PGS000182 (neut) |
PSS000290| European Ancestry| 2,314 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Neutrophil count | — | — | R²: 0.06859 | sex, age, 10 genetic PCs | — |
| PPM000555 | PGS000179 (mpv) |
PSS000290| European Ancestry| 2,314 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Mean platelet volume | — | — | R²: 0.19379 | sex, age, 10 genetic PCs | — |
| PPM000554 | PGS000177 (mono) |
PSS000290| European Ancestry| 2,314 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Monocyte count | — | — | R²: 0.09474 | sex, age, 10 genetic PCs | — |
| PPM000553 | PGS000176 (mcv) |
PSS000290| European Ancestry| 2,314 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Mean corpuscular volume | — | — | R²: 0.1665 | sex, age, 10 genetic PCs | — |
| PPM000552 | PGS000174 (mch) |
PSS000290| European Ancestry| 2,314 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Mean corpuscular hemoglobin | — | — | R²: 0.17483 | sex, age, 10 genetic PCs | — |
| PPM000551 | PGS000175 (mchc) |
PSS000290| European Ancestry| 2,314 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Mean corpuscular hemoglobin concentration | — | — | R²: 0.04796 | sex, age, 10 genetic PCs | — |
| PPM000550 | PGS000172 (lymph) |
PSS000290| European Ancestry| 2,314 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Lymphocyte count | — | — | R²: 0.03217 | sex, age, 10 genetic PCs | — |
| PPM000549 | PGS000168 (hgb) |
PSS000290| European Ancestry| 2,314 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Hemoglobin concentration | — | — | R²: 0.0646 | sex, age, 10 genetic PCs | — |
| PPM000548 | PGS000167 (hct) |
PSS000290| European Ancestry| 2,314 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Hematocrit | — | — | R²: 0.05147 | sex, age, 10 genetic PCs | — |
| PPM000546 | PGS000163 (baso) |
PSS000290| European Ancestry| 2,314 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Basophil count | — | — | R²: 0.0089 | sex, age, 10 genetic PCs | — |
| PPM000545 | PGS000191 (wbc) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: White blood cell count | — | — | R²: 0.08672 | sex, age, 10 genetic PCs | — |
| PPM000544 | PGS000190 (ret_p) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Reticulocyte fraction of red cells | — | — | R²: 0.15022 | sex, age, 10 genetic PCs | — |
| PPM000543 | PGS000189 (ret) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Reticulocyte count | — | — | R²: 0.14142 | sex, age, 10 genetic PCs | — |
| PPM000542 | PGS000188 (rdw) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Red cell distribution width | — | — | R²: 0.09519 | sex, age, 10 genetic PCs | — |
| PPM000541 | PGS000187 (rbc) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Red blood cell count | — | — | R²: 0.11765 | sex, age, 10 genetic PCs | — |
| PPM000540 | PGS000186 (plt) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Platelet count | — | — | R²: 0.19195 | sex, age, 10 genetic PCs | — |
| PPM000539 | PGS000185 (pdw) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Platelet distribution width | — | — | R²: 0.05996 | sex, age, 10 genetic PCs | — |
| PPM000538 | PGS000184 (pct) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Plateletcrit | — | — | R²: 0.1555 | sex, age, 10 genetic PCs | — |
| PPM000537 | PGS000183 (neut_p) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Neutrophil percentage of white cells | — | — | R²: 0.06432 | sex, age, 10 genetic PCs | — |
| PPM000536 | PGS000182 (neut) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Neutrophil count | — | — | R²: 0.08009 | sex, age, 10 genetic PCs | — |
| PPM000535 | PGS000179 (mpv) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Mean platelet volume | — | — | R²: 0.27306 | sex, age, 10 genetic PCs | — |
| PPM000534 | PGS000178 (mono_p) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Monocyte percentage of white cells | — | — | R²: 0.14461 | sex, age, 10 genetic PCs | — |
| PPM000533 | PGS000177 (mono) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Monocyte count | — | — | R²: 0.15859 | sex, age, 10 genetic PCs | — |
| PPM000532 | PGS000176 (mcv) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Mean corpuscular volume | — | — | R²: 0.15931 | sex, age, 10 genetic PCs | — |
| PPM000531 | PGS000175 (mchc) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Mean corpuscular hemoglobin concentration | — | — | R²: 0.05159 | sex, age, 10 genetic PCs | — |
| PPM000530 | PGS000174 (mch) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Mean corpuscular hemoglobin | — | — | R²: 0.18282 | sex, age, 10 genetic PCs | — |
| PPM000529 | PGS000173 (lymph_p) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Lymphocyte percentage of white cells | — | — | R²: 0.06965 | sex, age, 10 genetic PCs | — |
| PPM000528 | PGS000172 (lymph) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Lymphocyte count | — | — | R²: 0.10555 | sex, age, 10 genetic PCs | — |
| PPM000527 | PGS000171 (irf) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Immature fraction of reticulocytes | — | — | R²: 0.09164 | sex, age, 10 genetic PCs | — |
| PPM000526 | PGS000170 (hlr_p) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: High light scatter reticulocyte percentage of red cells | — | — | R²: 0.12799 | sex, age, 10 genetic PCs | — |
| PPM000525 | PGS000169 (hlr) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: High light scatter reticulocyte count | — | — | R²: 0.11896 | sex, age, 10 genetic PCs | — |
| PPM000524 | PGS000168 (hgb) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Hemoglobin concentration | — | — | R²: 0.05697 | sex, age, 10 genetic PCs | — |
| PPM000523 | PGS000167 (hct) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Hematocrit | — | — | R²: 0.04931 | sex, age, 10 genetic PCs | — |
| PPM000522 | PGS000166 (eo_p) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Eosinophil percentage of white cells | — | — | R²: 0.0979 | sex, age, 10 genetic PCs | — |
| PPM000521 | PGS000165 (eo) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Eosinophil count | — | — | R²: 0.11155 | sex, age, 10 genetic PCs | — |
| PPM000520 | PGS000164 (baso_p) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Basophil percentage of white cells | — | — | R²: 0.02544 | sex, age, 10 genetic PCs | — |
| PPM000519 | PGS000163 (baso) |
PSS000291| European Ancestry| 39,260 individuals |
PGP000078 | Vuckovic D et al. Cell (2020) |
Reported Trait: Basophil count | — | — | R²: 0.02691 | sex, age, 10 genetic PCs | — |
|
PGS Sample Set ID (PSS) |
Phenotype Definitions and Methods | Participant Follow-up Time | Sample Numbers | Age of Study Participants | Sample Ancestry | Additional Ancestry Description | Cohort(s) | Additional Sample/Cohort Information |
|---|---|---|---|---|---|---|---|---|
| PSS000290 | — | — | 2,314 individuals | — | European (French Canadian) |
— | CARTaGENE | — |
| PSS000291 | — | — | 39,260 individuals | — | European | — | INTERVAL | — |