{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T20:27:14Z","timestamp":1791923234019,"version":"4.3.4"},"reference-count":30,"publisher":"Oxford University Press (OUP)","issue":"D1","license":[{"start":{"date-parts":[[2024,11,20]],"date-time":"2024-11-20T00:00:00Z","timestamp":1732060800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100012579","name":"ISF","doi-asserted-by":"publisher","award":["2753\/20"],"award-info":[{"award-number":["2753\/20"]}],"id":[{"id":"10.13039\/100012579","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100003161","name":"National Alopecia Areata Foundation","doi-asserted-by":"publisher","award":["2023"],"award-info":[{"award-number":["2023"]}],"id":[{"id":"10.13039\/100003161","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Center for Interdisciplinary Data Science Research","award":["3035000440"],"award-info":[{"award-number":["3035000440"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The Proteome-Wide Association Study (PWAS) is a protein-based genetic association approach designed to complement traditional variant-based methods like GWAS. PWAS operates in two stages: first, machine learning models predict the impact of genetic variants on protein-coding genes, generating effect scores. These scores are then aggregated into a gene-damaging score for each individual. This score is then used in case-control statistical tests to significantly link to specific phenotypes. PWAS Hub (v1.2) is a user-friendly platform that facilitates the exploration of gene-disease associations using clinical and genetic data from the UK Biobank (UKB), encompassing 500k individuals. PWAS Hub reports on 819 diseases and phenotypes determined by PheCode and ICD-10 clinical codes, each with a minimum of 400 affected individuals. PWAS-derived gene associations were reported for 72% of the tested phenotypes. The PWAS Hub also analyzes gene associations separately for males and females, considering sex-specific genetic effects, inheritance patterns (dominant and recessive), and gene pleiotropy. We illustrated the utility of the PWAS Hub for primary (essential) hypertension (I10), type 2 diabetes mellitus (E11), and specified haematuria (R31) that showed sex-dependent genetic signals. The PWAS Hub, available at pwas.huji.ac.il, is a valuable resource for studying genetic contributions to common diseases and sex-specific effects.<\/jats:p>","DOI":"10.1093\/nar\/gkae1125","type":"journal-article","created":{"date-parts":[[2024,11,20]],"date-time":"2024-11-20T14:45:27Z","timestamp":1732113927000},"page":"D1132-D1143","source":"Crossref","is-referenced-by-count":7,"title":["PWAS Hub: exploring gene-based associations of complex diseases with sex dependency"],"prefix":"10.1093","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-7553-3807","authenticated-orcid":false,"given":"Roei","family":"Zucker","sequence":"first","affiliation":[{"name":"The Rachel and Selim Benin School of Computer Science and Engineering, The Hebrew University of Jerusalem , Jerusalem\u00a0 91904 ,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8604-3279","authenticated-orcid":false,"given":"Guy","family":"Kelman","sequence":"additional","affiliation":[{"name":"The Jerusalem Center for Personalized Computational Medicine, Faculty of Medicine, The Hebrew University of Jerusalem , Jerusalem\u00a09112102,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9357-4526","authenticated-orcid":false,"given":"Michal","family":"Linial","sequence":"additional","affiliation":[{"name":"Department of Biological Chemistry, Institute of Life Sciences, The Hebrew University of Jerusalem , Jerusalem\u00a0 91904 ,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,11,20]]},"reference":[{"key":"2025010610470864300_B1","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/s43586-021-00056-9","article-title":"Genome-wide association studies","volume":"1","author":"Uffelmann","year":"2021","journal-title":"Nature Rev. 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