The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores

the Alzheimer’s Disease Neuroimaging Initiative; Cornell University Investigators; Dartmouth-Hitchcock Medical Center Investigators; Hartford Hospital, Olin Neuropsychiatry Research Center Investigators; Neurological Care of Central New York Investigators; Butler Hospital Memory and Aging Program Investigators; Long Beach Veterans Affairs Neuropsychiatric Research Program Investigators; Vanderbilt University Medical Center Investigators; Barrow Neurological Institute Investigators; Houston Methodist Neurological Institute Investigators; Roper St. Francis Healthcare Investigators; Cleveland Clinic Lou Ruvo Center for Brain Health Investigators; Rhode Island Hospital Investigators; Wake Forest University Health Sciences Investigators; University of Iowa College of Medicine Investigators; Albany Medical College Investigators; Ohio State University Investigators; Banner Alzheimer’s Institute Investigators; University of Wisconsin Investigators; Parkwood Institute Investigators; Dent Neurologic Institute Investigators; University of California, Davis-Sacramento Investigators; Case Western Reserve University Investigators; Howard University Investigators; Boston University Investigators; Banner Sun Health Research Institute Investigators; Stanford University Investigators; Brigham and Women’s Hospital Investigators; Georgetown University Medical Center Investigators; University of California, San Francisco Investigators; Nathan Kline Institute Investigators; Northwestern University Investigators; St. Joseph’s Health Care Investigators; University of British Columbia Clinic for Alzheimer’s Disease and Related Disorders Investigators; Sunnybrook Health Sciences, Ontario Investigators; McGill University, Montreal-Jewish General Hospital Investigators; Yale University School of Medicine Investigators; Indiana University Investigators; Mayo Clinic, Jacksonville Investigators; University of California, Los Angeles Investigators; University of Kansas Medical Center Investigators; Emory University Investigators; University of Texas Southwestern Medical School Investigators; University of California Irvine Institute for Memory Impairments and Neurological Disorders Investigators; University of Rochester Medical Center Investigators; University of Pittsburgh Investigators; University of Kentucky Investigators; University of Pennsylvania Investigators; Duke University Medical Center Investigators; New York University Investigators; University of South Florida: USF Health Byrd Alzheimer’s Institute Investigators; Johns Hopkins University Investigators; Wien Center Investigators; Rush University Medical Center Investigators; Mount Sinai School of Medicine Investigators; University of Alabama, Birmingham Investigators; Washington University in St. Louis Investigators; Columbia University Medical Center Investigators; Baylor College of Medicine Investigators; Mayo Clinic, Rochester Investigators; University of Michigan Investigators; University of California, San Diego Investigators; University of Southern California Investigators; Oregon Health & Science University Investigators; National Institute on Aging; Initial Concept Planning and Development; Genetics Core Leaders and Key Personnel; Informatics Core Leaders and Key Personnel; Biomarkers Core Leaders and Key Personnel; Neuropathology Core Leaders and Key Personnel; PET Core Leaders and Key Personnel; MRI Core Leaders and Key Personnel; Biostatistics Core Leaders and Key Personnel; Clinical Core Leaders and Key Personnel; Resource Allocation Review Committee; Data and Publications Committee; Administrative Core - Northern California Institute for Research & Education (NCIRE / The Veterans Health Research Institute); ADNI 3 Private Partner Scientific Board (PPSB); ADNI External Advisory Board (ESAB); Executive Committee; ATRI PI and Director of Coordinating Center Clinical Core; Principal Investigator

doi:10.1038/s42003-022-03795-x

The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores

the Alzheimer’s Disease Neuroimaging Initiative, Cornell University Investigators, Dartmouth-Hitchcock Medical Center Investigators, Hartford Hospital, Olin Neuropsychiatry Research Center Investigators, Neurological Care of Central New York Investigators, Butler Hospital Memory and Aging Program Investigators, Long Beach Veterans Affairs Neuropsychiatric Research Program Investigators, Vanderbilt University Medical Center Investigators, Barrow Neurological Institute Investigators, Houston Methodist Neurological Institute Investigators, Roper St. Francis Healthcare Investigators, Cleveland Clinic Lou Ruvo Center for Brain Health Investigators, Rhode Island Hospital Investigators, Wake Forest University Health Sciences Investigators, University of Iowa College of Medicine Investigators, Albany Medical College Investigators, Ohio State University Investigators, Banner Alzheimer’s Institute Investigators, University of Wisconsin Investigators, Parkwood Institute InvestigatorsDent Neurologic Institute Investigators, University of California, Davis-Sacramento Investigators, Case Western Reserve University Investigators, Howard University Investigators, Boston University Investigators, Banner Sun Health Research Institute Investigators, Stanford University Investigators, Brigham and Women’s Hospital Investigators, Georgetown University Medical Center Investigators, University of California, San Francisco Investigators, Nathan Kline Institute Investigators, Northwestern University Investigators, St. Joseph’s Health Care Investigators, University of British Columbia Clinic for Alzheimer’s Disease and Related Disorders Investigators, Sunnybrook Health Sciences, Ontario Investigators, McGill University, Montreal-Jewish General Hospital Investigators, Yale University School of Medicine Investigators, Indiana University Investigators, Mayo Clinic, Jacksonville Investigators, University of California, Los Angeles Investigators, University of Kansas Medical Center Investigators, Emory University Investigators, University of Texas Southwestern Medical School Investigators, University of California Irvine Institute for Memory Impairments and Neurological Disorders Investigators, University of Rochester Medical Center Investigators, University of Pittsburgh Investigators, University of Kentucky Investigators, University of Pennsylvania Investigators, Duke University Medical Center Investigators, New York University Investigators, University of South Florida: USF Health Byrd Alzheimer’s Institute Investigators, Johns Hopkins University Investigators, Wien Center Investigators, Rush University Medical Center Investigators, Mount Sinai School of Medicine Investigators, University of Alabama, Birmingham Investigators, Washington University in St. Louis Investigators, Columbia University Medical Center Investigators, Baylor College of Medicine Investigators, Mayo Clinic, Rochester Investigators, University of Michigan Investigators, University of California, San Diego Investigators, University of Southern California Investigators, Oregon Health & Science University Investigators, National Institute on Aging, Initial Concept Planning and Development, Genetics Core Leaders and Key Personnel, Informatics Core Leaders and Key Personnel, Biomarkers Core Leaders and Key Personnel, Neuropathology Core Leaders and Key Personnel, PET Core Leaders and Key Personnel, MRI Core Leaders and Key Personnel, Biostatistics Core Leaders and Key Personnel, Clinical Core Leaders and Key Personnel, Resource Allocation Review Committee, Data and Publications Committee, Administrative Core - Northern California Institute for Research & Education (NCIRE / The Veterans Health Research Institute), ADNI 3 Private Partner Scientific Board (PPSB), ADNI External Advisory Board (ESAB), Executive Committee, ATRI PI and Director of Coordinating Center Clinical Core, Principal Investigator

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

Abstract

The process of identifying suitable genome-wide association (GWA) studies and formatting the data to calculate multiple polygenic risk scores on a single genome can be laborious. Here, we present a centralized polygenic risk score calculator currently containing over 250,000 genetic variant associations from the NHGRI-EBI GWAS Catalog for users to easily calculate sample-specific polygenic risk scores with comparable results to other available tools. Polygenic risk scores are calculated either online through the Polygenic Risk Score Knowledge Base (PRSKB; https://prs.byu.edu) or via a command-line interface. We report study-specific polygenic risk scores across the UK Biobank, 1000 Genomes, and the Alzheimer’s Disease Neuroimaging Initiative (ADNI), contextualize computed scores, and identify potentially confounding genetic risk factors in ADNI. We introduce a streamlined analysis tool and web interface to calculate and contextualize polygenic risk scores across various studies, which we anticipate will facilitate a wider adaptation of polygenic risk scores in future disease research.

Original language	English
Article number	899
Journal	Communications Biology
Volume	5
Issue number	1
DOIs	https://doi.org/10.1038/s42003-022-03795-x
State	Published - 1 Dec 2022
Externally published	Yes

ASJC Scopus subject areas

Medicine (miscellaneous)
General Biochemistry, Genetics and Molecular Biology
General Agricultural and Biological Sciences

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10.1038/s42003-022-03795-x

Cite this

the Alzheimer’s Disease Neuroimaging Initiative, Cornell University Investigators, Dartmouth-Hitchcock Medical Center Investigators, Hartford Hospital, Olin Neuropsychiatry Research Center Investigators, Neurological Care of Central New York Investigators, Butler Hospital Memory and Aging Program Investigators, Long Beach Veterans Affairs Neuropsychiatric Research Program Investigators, Vanderbilt University Medical Center Investigators, Barrow Neurological Institute Investigators, Houston Methodist Neurological Institute Investigators, Roper St. Francis Healthcare Investigators, Cleveland Clinic Lou Ruvo Center for Brain Health Investigators, Rhode Island Hospital Investigators, Wake Forest University Health Sciences Investigators, University of Iowa College of Medicine Investigators, Albany Medical College Investigators, Ohio State University Investigators, Banner Alzheimer’s Institute Investigators, University of Wisconsin Investigators, ... Principal Investigator (2022). The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores. Communications Biology, 5(1), Article 899. https://doi.org/10.1038/s42003-022-03795-x

@article{415de56fe5694b2fb35b7a65b3ecf755,

title = "The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores",

abstract = "The process of identifying suitable genome-wide association (GWA) studies and formatting the data to calculate multiple polygenic risk scores on a single genome can be laborious. Here, we present a centralized polygenic risk score calculator currently containing over 250,000 genetic variant associations from the NHGRI-EBI GWAS Catalog for users to easily calculate sample-specific polygenic risk scores with comparable results to other available tools. Polygenic risk scores are calculated either online through the Polygenic Risk Score Knowledge Base (PRSKB; https://prs.byu.edu) or via a command-line interface. We report study-specific polygenic risk scores across the UK Biobank, 1000 Genomes, and the Alzheimer{\textquoteright}s Disease Neuroimaging Initiative (ADNI), contextualize computed scores, and identify potentially confounding genetic risk factors in ADNI. We introduce a streamlined analysis tool and web interface to calculate and contextualize polygenic risk scores across various studies, which we anticipate will facilitate a wider adaptation of polygenic risk scores in future disease research.",

author = "{the Alzheimer{\textquoteright}s Disease Neuroimaging Initiative} and {Cornell University Investigators} and {Dartmouth-Hitchcock Medical Center Investigators} and {Hartford Hospital, Olin Neuropsychiatry Research Center Investigators} and {Neurological Care of Central New York Investigators} and {Butler Hospital Memory and Aging Program Investigators} and {Long Beach Veterans Affairs Neuropsychiatric Research Program Investigators} and {Vanderbilt University Medical Center Investigators} and {Barrow Neurological Institute Investigators} and {Houston Methodist Neurological Institute Investigators} and {Roper St. Francis Healthcare Investigators} and {Cleveland Clinic Lou Ruvo Center for Brain Health Investigators} and {Rhode Island Hospital Investigators} and {Wake Forest University Health Sciences Investigators} and {University of Iowa College of Medicine Investigators} and {Albany Medical College Investigators} and {Ohio State University Investigators} and {Banner Alzheimer{\textquoteright}s Institute Investigators} and {University of Wisconsin Investigators} and {Parkwood Institute Investigators} and {Dent Neurologic Institute Investigators} and {University of California, Davis-Sacramento Investigators} and {Case Western Reserve University Investigators} and {Howard University Investigators} and {Boston University Investigators} and {Banner Sun Health Research Institute Investigators} and {Stanford University Investigators} and {Brigham and Women{\textquoteright}s Hospital Investigators} and {Georgetown University Medical Center Investigators} and {University of California, San Francisco Investigators} and {Nathan Kline Institute Investigators} and {Northwestern University Investigators} and {St. Joseph{\textquoteright}s Health Care Investigators} and {University of British Columbia Clinic for Alzheimer{\textquoteright}s Disease and Related Disorders Investigators} and {Sunnybrook Health Sciences, Ontario Investigators} and {McGill University, Montreal-Jewish General Hospital Investigators} and {Yale University School of Medicine Investigators} and {Indiana University Investigators} and {Mayo Clinic, Jacksonville Investigators} and {University of California, Los Angeles Investigators} and {University of Kansas Medical Center Investigators} and {Emory University Investigators} and {University of Texas Southwestern Medical School Investigators} and {University of California Irvine Institute for Memory Impairments and Neurological Disorders Investigators} and {University of Rochester Medical Center Investigators} and {University of Pittsburgh Investigators} and {University of Kentucky Investigators} and {University of Pennsylvania Investigators} and {Duke University Medical Center Investigators} and {New York University Investigators} and {University of South Florida: USF Health Byrd Alzheimer{\textquoteright}s Institute Investigators} and {Johns Hopkins University Investigators} and {Wien Center Investigators} and {Rush University Medical Center Investigators} and {Mount Sinai School of Medicine Investigators} and {University of Alabama, Birmingham Investigators} and {Washington University in St. Louis Investigators} and {Columbia University Medical Center Investigators} and {Baylor College of Medicine Investigators} and {Mayo Clinic, Rochester Investigators} and {University of Michigan Investigators} and {University of California, San Diego Investigators} and {University of Southern California Investigators} and {Oregon Health & Science University Investigators} and {National Institute on Aging} and {Initial Concept Planning and Development} and {Genetics Core Leaders and Key Personnel} and {Informatics Core Leaders and Key Personnel} and {Biomarkers Core Leaders and Key Personnel} and {Neuropathology Core Leaders and Key Personnel} and {PET Core Leaders and Key Personnel} and {MRI Core Leaders and Key Personnel} and {Biostatistics Core Leaders and Key Personnel} and {Clinical Core Leaders and Key Personnel} and {Resource Allocation Review Committee} and {Data and Publications Committee} and {Administrative Core - Northern California Institute for Research & Education (NCIRE / The Veterans Health Research Institute)} and {ADNI 3 Private Partner Scientific Board (PPSB)} and {ADNI External Advisory Board (ESAB)} and {Executive Committee} and {ATRI PI and Director of Coordinating Center Clinical Core} and {Principal Investigator} and Page, {Madeline L.} and Vance, {Elizabeth L.} and Cloward, {Matthew E.} and Ed Ringger and Louisa Dayton and Ebbert, {Mark T.W.} and L. Ravdin and M. Lin and A. Lee and G. Chiang and N. Relkin and Santulli, {R. B.} and Hynes, {M. L.} and M. Seltzer and Flashman, {L. A.} and K. Anderson and K. Blank and Perlson, {G. D.} and S. Kittur and S. Correia and P. Malloy and S. Salloway and S. Potkin and P. Newhouse and M. Sabbagh and A. Garcia and J. Shi and J. Masdeu and A. Williams and J. Mintzer and A. O{\textquoteright}Connell and A. Mintz and D. Munic and C. Bernick and A. Ritter and Daiello, {L. A.} and G. Tremont and Drake, {J. D.} and Ott, {B. R.} and Sink, {K. M.} and M. Yang and J. Cleveland and S. Craft and Williamson, {J. D.} and Schultz, {S. K.} and Nam, {K. W.} and H. Shim and H. Koleva and I. Rachinsky and J. Greenberg",

note = "Publisher Copyright: {\textcopyright} The Author(s) 2022.",

year = "2022",

month = dec,

day = "1",

doi = "10.1038/s42003-022-03795-x",

language = "English",

volume = "5",

journal = "Communications Biology",

issn = "2399-3642",

publisher = "Springer Nature",

number = "1",

}

the Alzheimer’s Disease Neuroimaging Initiative, Cornell University Investigators, Dartmouth-Hitchcock Medical Center Investigators, Hartford Hospital, Olin Neuropsychiatry Research Center Investigators, Neurological Care of Central New York Investigators, Butler Hospital Memory and Aging Program Investigators, Long Beach Veterans Affairs Neuropsychiatric Research Program Investigators, Vanderbilt University Medical Center Investigators, Barrow Neurological Institute Investigators, Houston Methodist Neurological Institute Investigators, Roper St. Francis Healthcare Investigators, Cleveland Clinic Lou Ruvo Center for Brain Health Investigators, Rhode Island Hospital Investigators, Wake Forest University Health Sciences Investigators, University of Iowa College of Medicine Investigators, Albany Medical College Investigators, Ohio State University Investigators, Banner Alzheimer’s Institute Investigators, University of Wisconsin Investigators, Parkwood Institute Investigators, Dent Neurologic Institute Investigators, University of California, Davis-Sacramento Investigators, Case Western Reserve University Investigators, Howard University Investigators, Boston University Investigators, Banner Sun Health Research Institute Investigators, Stanford University Investigators, Brigham and Women’s Hospital Investigators, Georgetown University Medical Center Investigators, University of California, San Francisco Investigators, Nathan Kline Institute Investigators, Northwestern University Investigators, St. Joseph’s Health Care Investigators, University of British Columbia Clinic for Alzheimer’s Disease and Related Disorders Investigators, Sunnybrook Health Sciences, Ontario Investigators, McGill University, Montreal-Jewish General Hospital Investigators, Yale University School of Medicine Investigators, Indiana University Investigators, Mayo Clinic, Jacksonville Investigators, University of California, Los Angeles Investigators, University of Kansas Medical Center Investigators, Emory University Investigators, University of Texas Southwestern Medical School Investigators, University of California Irvine Institute for Memory Impairments and Neurological Disorders Investigators, University of Rochester Medical Center Investigators, University of Pittsburgh Investigators, University of Kentucky Investigators, University of Pennsylvania Investigators, Duke University Medical Center Investigators, New York University Investigators, University of South Florida: USF Health Byrd Alzheimer’s Institute Investigators, Johns Hopkins University Investigators, Wien Center Investigators, Rush University Medical Center Investigators, Mount Sinai School of Medicine Investigators, University of Alabama, Birmingham Investigators, Washington University in St. Louis Investigators, Columbia University Medical Center Investigators, Baylor College of Medicine Investigators, Mayo Clinic, Rochester Investigators, University of Michigan Investigators, University of California, San Diego Investigators, University of Southern California Investigators, Oregon Health & Science University Investigators, National Institute on Aging, Initial Concept Planning and Development, Genetics Core Leaders and Key Personnel, Informatics Core Leaders and Key Personnel, Biomarkers Core Leaders and Key Personnel, Neuropathology Core Leaders and Key Personnel, PET Core Leaders and Key Personnel, MRI Core Leaders and Key Personnel, Biostatistics Core Leaders and Key Personnel, Clinical Core Leaders and Key Personnel, Resource Allocation Review Committee, Data and Publications Committee, Administrative Core - Northern California Institute for Research & Education (NCIRE / The Veterans Health Research Institute), ADNI 3 Private Partner Scientific Board (PPSB), ADNI External Advisory Board (ESAB), Executive Committee, ATRI PI and Director of Coordinating Center Clinical Core & Principal Investigator 2022, 'The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores', Communications Biology, vol. 5, no. 1, 899. https://doi.org/10.1038/s42003-022-03795-x

The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores. / the Alzheimer’s Disease Neuroimaging Initiative; Cornell University Investigators; Dartmouth-Hitchcock Medical Center Investigators et al.
In: Communications Biology, Vol. 5, No. 1, 899, 01.12.2022.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores

AU - the Alzheimer’s Disease Neuroimaging Initiative

AU - Cornell University Investigators

AU - Dartmouth-Hitchcock Medical Center Investigators

AU - Hartford Hospital, Olin Neuropsychiatry Research Center Investigators

AU - Neurological Care of Central New York Investigators

AU - Butler Hospital Memory and Aging Program Investigators

AU - Long Beach Veterans Affairs Neuropsychiatric Research Program Investigators

AU - Vanderbilt University Medical Center Investigators

AU - Barrow Neurological Institute Investigators

AU - Houston Methodist Neurological Institute Investigators

AU - Roper St. Francis Healthcare Investigators

AU - Cleveland Clinic Lou Ruvo Center for Brain Health Investigators

AU - Rhode Island Hospital Investigators

AU - Wake Forest University Health Sciences Investigators

AU - University of Iowa College of Medicine Investigators

AU - Albany Medical College Investigators

AU - Ohio State University Investigators

AU - Banner Alzheimer’s Institute Investigators

AU - University of Wisconsin Investigators

AU - Parkwood Institute Investigators

AU - Dent Neurologic Institute Investigators

AU - University of California, Davis-Sacramento Investigators

AU - Case Western Reserve University Investigators

AU - Howard University Investigators

AU - Boston University Investigators

AU - Banner Sun Health Research Institute Investigators

AU - Stanford University Investigators

AU - Brigham and Women’s Hospital Investigators

AU - Georgetown University Medical Center Investigators

AU - University of California, San Francisco Investigators

AU - Nathan Kline Institute Investigators

AU - Northwestern University Investigators

AU - St. Joseph’s Health Care Investigators

AU - University of British Columbia Clinic for Alzheimer’s Disease and Related Disorders Investigators

AU - Sunnybrook Health Sciences, Ontario Investigators

AU - McGill University, Montreal-Jewish General Hospital Investigators

AU - Yale University School of Medicine Investigators

AU - Indiana University Investigators

AU - Mayo Clinic, Jacksonville Investigators

AU - University of California, Los Angeles Investigators

AU - University of Kansas Medical Center Investigators

AU - Emory University Investigators

AU - University of Texas Southwestern Medical School Investigators

AU - University of California Irvine Institute for Memory Impairments and Neurological Disorders Investigators

AU - University of Rochester Medical Center Investigators

AU - University of Pittsburgh Investigators

AU - University of Kentucky Investigators

AU - University of Pennsylvania Investigators

AU - Duke University Medical Center Investigators

AU - New York University Investigators

AU - University of South Florida: USF Health Byrd Alzheimer’s Institute Investigators

AU - Johns Hopkins University Investigators

AU - Wien Center Investigators

AU - Rush University Medical Center Investigators

AU - Mount Sinai School of Medicine Investigators

AU - University of Alabama, Birmingham Investigators

AU - Washington University in St. Louis Investigators

AU - Columbia University Medical Center Investigators

AU - Baylor College of Medicine Investigators

AU - Mayo Clinic, Rochester Investigators

AU - University of Michigan Investigators

AU - University of California, San Diego Investigators

AU - University of Southern California Investigators

AU - Oregon Health & Science University Investigators

AU - National Institute on Aging

AU - Initial Concept Planning and Development

AU - Genetics Core Leaders and Key Personnel

AU - Informatics Core Leaders and Key Personnel

AU - Biomarkers Core Leaders and Key Personnel

AU - Neuropathology Core Leaders and Key Personnel

AU - PET Core Leaders and Key Personnel

AU - MRI Core Leaders and Key Personnel

AU - Biostatistics Core Leaders and Key Personnel

AU - Clinical Core Leaders and Key Personnel

AU - Resource Allocation Review Committee

AU - Data and Publications Committee

AU - Administrative Core - Northern California Institute for Research & Education (NCIRE / The Veterans Health Research Institute)

AU - ADNI 3 Private Partner Scientific Board (PPSB)

AU - ADNI External Advisory Board (ESAB)

AU - Executive Committee

AU - ATRI PI and Director of Coordinating Center Clinical Core

AU - Principal Investigator

AU - Page, Madeline L.

AU - Vance, Elizabeth L.

AU - Cloward, Matthew E.

AU - Ringger, Ed

AU - Dayton, Louisa

AU - Ebbert, Mark T.W.

AU - Ravdin, L.

AU - Lin, M.

AU - Lee, A.

AU - Chiang, G.

AU - Relkin, N.

AU - Santulli, R. B.

AU - Hynes, M. L.

AU - Seltzer, M.

AU - Flashman, L. A.

AU - Anderson, K.

AU - Blank, K.

AU - Perlson, G. D.

AU - Kittur, S.

AU - Correia, S.

AU - Malloy, P.

AU - Salloway, S.

AU - Potkin, S.

AU - Newhouse, P.

AU - Sabbagh, M.

AU - Garcia, A.

AU - Shi, J.

AU - Masdeu, J.

AU - Williams, A.

AU - Mintzer, J.

AU - O’Connell, A.

AU - Mintz, A.

AU - Munic, D.

AU - Bernick, C.

AU - Ritter, A.

AU - Daiello, L. A.

AU - Tremont, G.

AU - Drake, J. D.

AU - Ott, B. R.

AU - Sink, K. M.

AU - Yang, M.

AU - Cleveland, J.

AU - Craft, S.

AU - Williamson, J. D.

AU - Schultz, S. K.

AU - Nam, K. W.

AU - Shim, H.

AU - Koleva, H.

AU - Rachinsky, I.

AU - Greenberg, J.

PY - 2022/12/1

Y1 - 2022/12/1

N2 - The process of identifying suitable genome-wide association (GWA) studies and formatting the data to calculate multiple polygenic risk scores on a single genome can be laborious. Here, we present a centralized polygenic risk score calculator currently containing over 250,000 genetic variant associations from the NHGRI-EBI GWAS Catalog for users to easily calculate sample-specific polygenic risk scores with comparable results to other available tools. Polygenic risk scores are calculated either online through the Polygenic Risk Score Knowledge Base (PRSKB; https://prs.byu.edu) or via a command-line interface. We report study-specific polygenic risk scores across the UK Biobank, 1000 Genomes, and the Alzheimer’s Disease Neuroimaging Initiative (ADNI), contextualize computed scores, and identify potentially confounding genetic risk factors in ADNI. We introduce a streamlined analysis tool and web interface to calculate and contextualize polygenic risk scores across various studies, which we anticipate will facilitate a wider adaptation of polygenic risk scores in future disease research.

AB - The process of identifying suitable genome-wide association (GWA) studies and formatting the data to calculate multiple polygenic risk scores on a single genome can be laborious. Here, we present a centralized polygenic risk score calculator currently containing over 250,000 genetic variant associations from the NHGRI-EBI GWAS Catalog for users to easily calculate sample-specific polygenic risk scores with comparable results to other available tools. Polygenic risk scores are calculated either online through the Polygenic Risk Score Knowledge Base (PRSKB; https://prs.byu.edu) or via a command-line interface. We report study-specific polygenic risk scores across the UK Biobank, 1000 Genomes, and the Alzheimer’s Disease Neuroimaging Initiative (ADNI), contextualize computed scores, and identify potentially confounding genetic risk factors in ADNI. We introduce a streamlined analysis tool and web interface to calculate and contextualize polygenic risk scores across various studies, which we anticipate will facilitate a wider adaptation of polygenic risk scores in future disease research.

UR - http://www.scopus.com/inward/record.url?scp=85137169486&partnerID=8YFLogxK

U2 - 10.1038/s42003-022-03795-x

DO - 10.1038/s42003-022-03795-x

M3 - Article

C2 - 36056235

AN - SCOPUS:85137169486

SN - 2399-3642

VL - 5

JO - Communications Biology

JF - Communications Biology

IS - 1

M1 - 899

ER -

the Alzheimer’s Disease Neuroimaging Initiative, Cornell University Investigators, Dartmouth-Hitchcock Medical Center Investigators, Hartford Hospital, Olin Neuropsychiatry Research Center Investigators, Neurological Care of Central New York Investigators, Butler Hospital Memory and Aging Program Investigators et al. The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores. Communications Biology. 2022 Dec 1;5(1):899. doi: 10.1038/s42003-022-03795-x

The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores

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ASJC Scopus subject areas

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