{"id":"https://openalex.org/W3006031100","doi":"https://doi.org/10.1371/journal.pcbi.1007565","title":"Leveraging effect size distributions to improve polygenic risk scores derived from summary statistics of genome-wide association studies","display_name":"Leveraging effect size distributions to improve polygenic risk scores derived from summary statistics of genome-wide association studies","publication_year":2020,"publication_date":"2020-02-11","ids":{"openalex":"https://openalex.org/W3006031100","doi":"https://doi.org/10.1371/journal.pcbi.1007565","mag":"3006031100","pmid":"https://pubmed.ncbi.nlm.nih.gov/32045423"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pcbi.1007565","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1007565","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1007565&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1007565&type=printable","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5022165990","display_name":"Shuang Song","orcid":"https://orcid.org/0000-0002-1903-090X"},"institutions":[{"id":"https://openalex.org/I99065089","display_name":"Tsinghua University","ror":"https://ror.org/03cve4549","country_code":"CN","type":"education","lineage":["https://openalex.org/I99065089"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Shuang Song","raw_affiliation_strings":["Center for Statistical Science, Tsinghua University, Beijing, China","Department of Industrial Engineering, Tsinghua University, Beijing, China"],"raw_orcid":"https://orcid.org/0000-0002-1903-090X","affiliations":[{"raw_affiliation_string":"Center for Statistical Science, Tsinghua University, Beijing, China","institution_ids":["https://openalex.org/I99065089"]},{"raw_affiliation_string":"Department of Industrial Engineering, Tsinghua University, Beijing, China","institution_ids":["https://openalex.org/I99065089"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015211419","display_name":"Wei Jiang","orcid":"https://orcid.org/0000-0001-6120-5278"},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wei Jiang","raw_affiliation_strings":["Department of Biostatistics, School of Public Health, Yale University, New Haven, Connecticut, United States of America"],"raw_orcid":"https://orcid.org/0000-0001-6120-5278","affiliations":[{"raw_affiliation_string":"Department of Biostatistics, School of Public Health, Yale University, New Haven, Connecticut, United States of America","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067715314","display_name":"Lin Hou","orcid":"https://orcid.org/0000-0002-4283-8501"},"institutions":[{"id":"https://openalex.org/I99065089","display_name":"Tsinghua University","ror":"https://ror.org/03cve4549","country_code":"CN","type":"education","lineage":["https://openalex.org/I99065089"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Lin Hou","raw_affiliation_strings":["Center for Statistical Science, Tsinghua University, Beijing, China","Department of Industrial Engineering, Tsinghua University, Beijing, China"],"raw_orcid":"https://orcid.org/0000-0002-4283-8501","affiliations":[{"raw_affiliation_string":"Center for Statistical Science, Tsinghua University, Beijing, China","institution_ids":["https://openalex.org/I99065089"]},{"raw_affiliation_string":"Department of Industrial Engineering, Tsinghua University, Beijing, China","institution_ids":["https://openalex.org/I99065089"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5074828414","display_name":"Hongyu Zhao","orcid":"https://orcid.org/0000-0003-1195-9607"},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Hongyu Zhao","raw_affiliation_strings":["Department of Biostatistics, School of Public Health, Yale University, New Haven, Connecticut, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biostatistics, School of Public Health, Yale University, New Haven, Connecticut, United States of America","institution_ids":["https://openalex.org/I32971472"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5074828414"],"corresponding_institution_ids":["https://openalex.org/I32971472"],"apc_list":{"value":2655,"currency":"USD","value_usd":2655},"apc_paid":{"value":2655,"currency":"USD","value_usd":2655},"fwci":8.288,"has_fulltext":true,"cited_by_count":55,"citation_normalized_percentile":{"value":0.98009222,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":100},"biblio":{"volume":"16","issue":"2","first_page":"e1007565","last_page":"e1007565"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9991999864578247,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9991999864578247,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11482","display_name":"RNA modifications and cancer","score":0.9697999954223633,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.960099995136261,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6340842843055725},{"id":"https://openalex.org/keywords/linkage-disequilibrium","display_name":"Linkage disequilibrium","score":0.5510783195495605},{"id":"https://openalex.org/keywords/genetic-association","display_name":"Genetic association","score":0.44827815890312195},{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"Genome-wide association study","score":0.43499258160591125},{"id":"https://openalex.org/keywords/property","display_name":"Property (philosophy)","score":0.4248693883419037},{"id":"https://openalex.org/keywords/statistics","display_name":"Statistics","score":0.4133608341217041},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.3829972445964813},{"id":"https://openalex.org/keywords/machine-learning","display_name":"Machine learning","score":0.344855934381485},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.23874688148498535},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.11984655261039734},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.10794216394424438}],"concepts":[{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6340842843055725},{"id":"https://openalex.org/C35605836","wikidata":"https://www.wikidata.org/wiki/Q2064311","display_name":"Linkage disequilibrium","level":5,"score":0.5510783195495605},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.44827815890312195},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.43499258160591125},{"id":"https://openalex.org/C189950617","wikidata":"https://www.wikidata.org/wiki/Q937228","display_name":"Property (philosophy)","level":2,"score":0.4248693883419037},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.4133608341217041},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.3829972445964813},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.344855934381485},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.23874688148498535},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.11984655261039734},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.10794216394424438},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0},{"id":"https://openalex.org/C111472728","wikidata":"https://www.wikidata.org/wiki/Q9471","display_name":"Epistemology","level":1,"score":0.0},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D003198","descriptor_name":"Computer Simulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003198","descriptor_name":"Computer Simulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003198","descriptor_name":"Computer Simulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003198","descriptor_name":"Computer Simulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1371/journal.pcbi.1007565","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1007565","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1007565&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},{"id":"pmid:32045423","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32045423","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS computational biology","raw_type":null},{"id":"pmh:oai:RePEc:plo:pcbi00:1007565","is_oa":false,"landing_page_url":"https://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1007565","pdf_url":null,"source":{"id":"https://openalex.org/S4306401271","display_name":"RePEc: Research Papers in Economics","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I77793887","host_organization_name":"Federal Reserve Bank of St. Louis","host_organization_lineage":["https://openalex.org/I77793887"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article"},{"id":"pmh:oai:doaj.org/article:3e282df244654566bb6083104b47b1ab","is_oa":true,"landing_page_url":"https://doaj.org/article/3e282df244654566bb6083104b47b1ab","pdf_url":null,"source":{"id":"https://openalex.org/S112646816","display_name":"SHILAP Revista de lepidopterolog\u00eda","issn_l":"0300-5267","issn":["0300-5267","2340-4078"],"is_oa":true,"is_in_doaj":true,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Computational Biology, Vol 16, Iss 2, p e1007565 (2020)","raw_type":"article"},{"id":"pmh:oai:figshare.com:article/11838783","is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Leveraging_effect_size_distributions_to_improve_polygenic_risk_scores_derived_from_summary_statistics_of_genome-wide_association_studies/11838783","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Dataset"},{"id":"pmh:oai:pubmedcentral.nih.gov:7039528","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7039528","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Comput Biol","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1371/journal.pcbi.1007565","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1007565","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1007565&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.699999988079071,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"awards":[{"id":"https://openalex.org/G3564054520","display_name":null,"funder_award_id":"R01 GM122078","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G4225381318","display_name":null,"funder_award_id":"DMS 1713120","funder_id":"https://openalex.org/F4320306076","funder_display_name":"National Science Foundation"},{"id":"https://openalex.org/G5147077747","display_name":"Misspecified Mixed Model Analysis: Theory and Application","funder_award_id":"1713120","funder_id":"https://openalex.org/F4320306076","funder_display_name":"National Science Foundation"},{"id":"https://openalex.org/G5484651797","display_name":null,"funder_award_id":"3P30AG021342-16S2","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G8033156682","display_name":null,"funder_award_id":"R01 DA037974","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320306076","display_name":"National Science Foundation","ror":"https://ror.org/021nxhr62"},{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3006031100.pdf","grobid_xml":"https://content.openalex.org/works/W3006031100.grobid-xml"},"referenced_works_count":39,"referenced_works":["https://openalex.org/W1533555827","https://openalex.org/W1968385806","https://openalex.org/W1973234126","https://openalex.org/W2006423274","https://openalex.org/W2006617902","https://openalex.org/W2045017910","https://openalex.org/W2064337796","https://openalex.org/W2097656361","https://openalex.org/W2098597355","https://openalex.org/W2102729801","https://openalex.org/W2106779017","https://openalex.org/W2110514036","https://openalex.org/W2112409097","https://openalex.org/W2113442785","https://openalex.org/W2121063416","https://openalex.org/W2134783591","https://openalex.org/W2135665336","https://openalex.org/W2138069158","https://openalex.org/W2148181482","https://openalex.org/W2148641246","https://openalex.org/W2153968413","https://openalex.org/W2154605932","https://openalex.org/W2155496693","https://openalex.org/W2161527093","https://openalex.org/W2161998322","https://openalex.org/W2169795969","https://openalex.org/W2223385685","https://openalex.org/W2225089805","https://openalex.org/W2237571774","https://openalex.org/W2584238682","https://openalex.org/W2598022332","https://openalex.org/W2622530291","https://openalex.org/W2769997711","https://openalex.org/W2794573350","https://openalex.org/W2801678388","https://openalex.org/W2887191265","https://openalex.org/W2932671560","https://openalex.org/W2949754140","https://openalex.org/W2964261534"],"related_works":["https://openalex.org/W1523912222","https://openalex.org/W1480804049","https://openalex.org/W2594299395","https://openalex.org/W2066467839","https://openalex.org/W2111842731","https://openalex.org/W2170506381","https://openalex.org/W2765794416","https://openalex.org/W2039666944","https://openalex.org/W1531630856","https://openalex.org/W1486217206"],"abstract_inverted_index":{"Genetic":[0],"risk":[1,21,97],"prediction":[2,12,90,98],"is":[3,184,228],"an":[4],"important":[5],"problem":[6],"in":[7,44,144,207],"human":[8],"genetics,":[9],"and":[10,17,32,66,127,140,175,212],"accurate":[11],"can":[13],"facilitate":[14],"disease":[15,126],"prevention":[16],"treatment.":[18],"Calculating":[19],"polygenic":[20],"score":[22],"(PRS)":[23],"has":[24],"become":[25],"widely":[26],"used":[27],"due":[28],"to":[29,54,88,93,105,159],"its":[30],"simplicity":[31],"effectiveness,":[33],"where":[34],"only":[35],"summary":[36],"statistics":[37],"from":[38],"genome-wide":[39],"association":[40],"studies":[41],"are":[42],"needed":[43],"the":[45,86,186],"standard":[46,56,150],"method.":[47],"Recently,":[48],"several":[49],"methods":[50,206],"have":[51],"been":[52],"proposed":[53],"improve":[55,89],"PRS":[57,151],"by":[58,199],"utilizing":[59],"external":[60,109],"information,":[61,166],"such":[62],"as":[63],"linkage":[64],"disequilibrium":[65],"functional":[67],"annotations.":[68],"In":[69],"this":[70,208],"paper,":[71],"we":[72,194],"introduce":[73],"EB-PRS,":[74],"a":[75],"novel":[76],"method":[77,101,152,183,188,198,227],"that":[78,132,161,181,224],"leverages":[79],"information":[80],"for":[81],"effect":[82,190],"sizes":[83],"across":[84],"all":[85],"markers":[87],"accuracy.":[91],"Compared":[92],"most":[94],"existing":[95,205],"genetic":[96],"methods,":[99,211],"our":[100,182,197,214,226],"does":[102],"not":[103,185],"need":[104],"tune":[106],"parameters":[107],"nor":[108],"information.":[110],"Real":[111],"data":[112],"applications":[113],"on":[114,230],"six":[115],"diseases,":[116],"including":[117],"asthma,":[118],"breast":[119],"cancer,":[120],"celiac":[121],"disease,":[122,124],"Crohn's":[123],"Parkinson's":[125],"type":[128],"2":[129],"diabetes":[130],"show":[131],"EB-PRS":[133,167],"achieved":[134,169],"307.1%,":[135],"42.8%,":[136],"25.5%,":[137],"3.1%,":[138],"74.3%":[139],"49.6%":[141],"relative":[142,177],"improvements":[143],"terms":[145],"of":[146,164,210],"predictive":[147],"r2":[148],"over":[149,204],"with":[153,217],"optimally":[154],"tuned":[155],"parameters.":[156],"Besides,":[157],"compared":[158],"LDpred":[160],"makes":[162],"use":[163],"LD":[165],"also":[168],"37.9%,":[170],"33.6%,":[171],"8.6%,":[172],"36.2%,":[173],"40.6%":[174],"10.8%":[176],"improvements.":[178],"We":[179],"note":[180],"first":[187,195],"leveraging":[189],"size":[191],"distributions.":[192],"Here":[193],"justify":[196],"presenting":[200],"theoretical":[201,215],"optimal":[202],"property":[203],"class":[209],"substantiate":[213],"result":[216],"extensive":[218],"simulation":[219],"results.":[220],"The":[221],"R-package":[222],"EBPRS":[223],"implements":[225],"available":[229],"CRAN.":[231]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":6},{"year":2023,"cited_by_count":12},{"year":2022,"cited_by_count":10},{"year":2021,"cited_by_count":23},{"year":2020,"cited_by_count":1}],"updated_date":"2026-03-27T05:58:40.876381","created_date":"2025-10-10T00:00:00"}
