PGS Publication: PGP000078

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.
Released in PGS Catalog: April 29, 2020

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution PGS Scoring File (FTP Link)
PGS000171
(irf)
PGP000078 |
Vuckovic D et al. Cell (2020)
Immature fraction of reticulocytes reticulocyte count 372
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000171/ScoringFiles/PGS000171.txt.gz
PGS000163
(baso)
PGP000078 |
Vuckovic D et al. Cell (2020)
Basophil count basophil count 185
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000163/ScoringFiles/PGS000163.txt.gz
PGS000164
(baso_p)
PGP000078 |
Vuckovic D et al. Cell (2020)
Basophil percentage of white cells basophil percentage of leukocytes 150
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000164/ScoringFiles/PGS000164.txt.gz
PGS000165
(eo)
PGP000078 |
Vuckovic D et al. Cell (2020)
Eosinophil count eosinophil count 607
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000165/ScoringFiles/PGS000165.txt.gz
PGS000166
(eo_p)
PGP000078 |
Vuckovic D et al. Cell (2020)
Eosinophil percentage of white cells eosinophil percentage of leukocytes 571
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000166/ScoringFiles/PGS000166.txt.gz
PGS000169
(hlr)
PGP000078 |
Vuckovic D et al. Cell (2020)
High light scatter reticulocyte count reticulocyte count 570
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000169/ScoringFiles/PGS000169.txt.gz
PGS000170
(hlr_p)
PGP000078 |
Vuckovic D et al. Cell (2020)
High light scatter reticulocyte percentage of red cells reticulocyte count 566
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000170/ScoringFiles/PGS000170.txt.gz
PGS000173
(lymph_p)
PGP000078 |
Vuckovic D et al. Cell (2020)
Lymphocyte percentage of white cells lymphocyte percentage of leukocytes 472
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000173/ScoringFiles/PGS000173.txt.gz
PGS000174
(mch)
PGP000078 |
Vuckovic D et al. Cell (2020)
Mean corpuscular hemoglobin mean corpuscular hemoglobin 628
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000174/ScoringFiles/PGS000174.txt.gz
PGS000180
(mrv)
PGP000078 |
Vuckovic D et al. Cell (2020)
Mean reticulocyte volume mean reticulocyte volume 629
-
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000180/ScoringFiles/PGS000180.txt.gz
PGS000178
(mono_p)
PGP000078 |
Vuckovic D et al. Cell (2020)
Monocyte percentage of white cells monocyte percentage of leukocytes 549
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000178/ScoringFiles/PGS000178.txt.gz
PGS000181
(mscv)
PGP000078 |
Vuckovic D et al. Cell (2020)
Mean sphered corpuscular volume mean corpuscular volume 761
-
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000181/ScoringFiles/PGS000181.txt.gz
PGS000182
(neut)
PGP000078 |
Vuckovic D et al. Cell (2020)
Neutrophil count neutrophil count 492
-
http://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
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000183/ScoringFiles/PGS000183.txt.gz
PGS000177
(mono)
PGP000078 |
Vuckovic D et al. Cell (2020)
Monocyte count monocyte count 638
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000177/ScoringFiles/PGS000177.txt.gz
PGS000185
(pdw)
PGP000078 |
Vuckovic D et al. Cell (2020)
Platelet distribution width platelet component distribution width 555
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000185/ScoringFiles/PGS000185.txt.gz
PGS000186
(plt)
PGP000078 |
Vuckovic D et al. Cell (2020)
Platelet count platelet count 739
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000186/ScoringFiles/PGS000186.txt.gz
PGS000188
(rdw)
PGP000078 |
Vuckovic D et al. Cell (2020)
Red cell distribution width red blood cell distribution width 546
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000188/ScoringFiles/PGS000188.txt.gz
PGS000189
(ret)
PGP000078 |
Vuckovic D et al. Cell (2020)
Reticulocyte count reticulocyte count 555
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000189/ScoringFiles/PGS000189.txt.gz
PGS000190
(ret_p)
PGP000078 |
Vuckovic D et al. Cell (2020)
Reticulocyte fraction of red cells reticulocyte count 537
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000190/ScoringFiles/PGS000190.txt.gz
PGS000176
(mcv)
PGP000078 |
Vuckovic D et al. Cell (2020)
Mean corpuscular volume mean corpuscular volume 685
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000176/ScoringFiles/PGS000176.txt.gz
PGS000172
(lymph)
PGP000078 |
Vuckovic D et al. Cell (2020)
Lymphocyte count lymphocyte count 621
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000172/ScoringFiles/PGS000172.txt.gz
PGS000184
(pct)
PGP000078 |
Vuckovic D et al. Cell (2020)
Plateletcrit platelet crit 700
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000184/ScoringFiles/PGS000184.txt.gz
PGS000168
(hgb)
PGP000078 |
Vuckovic D et al. Cell (2020)
Hemoglobin concentration hemoglobin measurement 515
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000168/ScoringFiles/PGS000168.txt.gz
PGS000175
(mchc)
PGP000078 |
Vuckovic D et al. Cell (2020)
Mean corpuscular hemoglobin concentration mean corpuscular hemoglobin concentration 224
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000175/ScoringFiles/PGS000175.txt.gz
PGS000179
(mpv)
PGP000078 |
Vuckovic D et al. Cell (2020)
Mean platelet volume mean platelet volume 654
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000179/ScoringFiles/PGS000179.txt.gz
PGS000187
(rbc)
PGP000078 |
Vuckovic D et al. Cell (2020)
Red blood cell count erythrocyte count 678
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000187/ScoringFiles/PGS000187.txt.gz
PGS000191
(wbc)
PGP000078 |
Vuckovic D et al. Cell (2020)
White blood cell count leukocyte count 636
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000191/ScoringFiles/PGS000191.txt.gz
PGS000167
(hct)
PGP000078 |
Vuckovic D et al. Cell (2020)
Hematocrit hematocrit 502
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000167/ScoringFiles/PGS000167.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 0.02691 sex, age, 10 genetic PCs

Evaluated Samples

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