{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T23:14:07Z","timestamp":1792019647908,"version":"4.4.0"},"reference-count":48,"publisher":"Oxford University Press (OUP)","issue":"D1","license":[{"start":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T00:00:00Z","timestamp":1763078400000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100018537","name":"National Science and Technology Major Project","doi-asserted-by":"publisher","award":["2023ZD0500600"],"award-info":[{"award-number":["2023ZD0500600"]}],"id":[{"id":"10.13039\/501100018537","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["T2425005"],"award-info":[{"award-number":["T2425005"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32030021"],"award-info":[{"award-number":["32030021"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32400498"],"award-info":[{"award-number":["32400498"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32470667"],"award-info":[{"award-number":["32470667"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Postdoctoral Fellowship Program of CPSF","award":["GZC20240156"],"award-info":[{"award-number":["GZC20240156"]}]},{"name":"National High Level Hospital Clinical Research Funding","award":["2025-PUMCH-C-008"],"award-info":[{"award-number":["2025-PUMCH-C-008"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The widespread use of next-generation sequencing in clinical practice has generated vast numbers of genetic variants from both inherited disorders and tumor profiling, many classified as variants of uncertain significance (VUS). These uncertain variants limit the clinical utility of genomic testing by constraining risk assessment, diagnosis, and treatment selection. Multiplexed Assays of Variant Effect (MAVEs) provide scalable, high-throughput functional data for variant characterization and are recognized by ACMG\/AMP guidelines as valid evidence for clinical classification. However, existing resources lack harmonized annotations, structured evidence grading, and interoperability with clinical databases needed for application in genetic disease and somatic cancer workflows. Here, we developed ClinMAVE (https:\/\/ngdc.cncb.ac.cn\/clinmave\/), a curated database for clinical application of MAVE data. ClinMAVE offers functional evidence for over 2.1 million variants across 821 genes, with standardized annotations, detailed assay context, and ACMG\/AMP-aligned evidence grading. Integrated with ClinVar, gnomAD, TCGA, and in silico tools, ClinMAVE bridges the gap between experimental data and clinical standards, providing a unified, clinician-ready platform for functional variant interpretation in both hereditary disease and cancer genomics.<\/jats:p>","DOI":"10.1093\/nar\/gkaf1102","type":"journal-article","created":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T05:03:51Z","timestamp":1763096631000},"page":"D1355-D1363","source":"Crossref","is-referenced-by-count":5,"title":["ClinMAVE: a curated database for clinical application of data from multiplexed assays of variant effect"],"prefix":"10.1093","volume":"54","author":[{"given":"Chenyu","family":"Ma","sequence":"first","affiliation":[{"name":"State Key Laboratory of Complex, Severe, and Rare Diseases; Center for Bioinformatics, National Infrastructures for Translational Medicine, Institute of Clinical Medicine & Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing 100730 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7374-3348","authenticated-orcid":false,"given":"Zhao","family":"Li","sequence":"additional","affiliation":[{"name":"National Genomics Data Center, China National Center for Bioinformation , Beijing 100101 ,","place":["China"]},{"name":"Beijing Institute of Genomics, Chinese Academy of Sciences , Beijing 100101 ,","place":["China"]},{"name":"University of Chinese Academy of Sciences , Beijing 100049 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Tang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Complex, Severe, and Rare Diseases; Center for Bioinformatics, National Infrastructures for Translational Medicine, Institute of Clinical Medicine & Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing 100730 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pan","family":"Li","sequence":"additional","affiliation":[{"name":"National Genomics Data Center, China National Center for Bioinformation , Beijing 100101 ,","place":["China"]},{"name":"Beijing Institute of Genomics, Chinese Academy of Sciences , Beijing 100101 ,","place":["China"]},{"name":"University of Chinese Academy of Sciences , Beijing 100049 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Bioinformatics, National Infrastructures for Translational Medicine, Institute of Clinical Medicine & Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing 100730 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiting","family":"Wang","sequence":"additional","affiliation":[{"name":"National Genomics Data Center, China National Center for Bioinformation , Beijing 100101 ,","place":["China"]},{"name":"Beijing Institute of Genomics, Chinese Academy of Sciences , Beijing 100101 ,","place":["China"]},{"name":"University of Chinese Academy of Sciences , Beijing 100049 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiayu","family":"Wu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Complex, Severe, and Rare Diseases; Center for Bioinformatics, National Infrastructures for Translational Medicine, Institute of Clinical Medicine & Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing 100730 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liheng","family":"Luo","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Complex, Severe, and Rare Diseases; Center for Bioinformatics, National Infrastructures for Translational Medicine, Institute of Clinical Medicine & Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing 100730 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaping","family":"Liu","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases; State Key Laboratory of Complex, Severe, and Rare Diseases; Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College , Beijing 100730 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6603-5060","authenticated-orcid":false,"given":"Zhang","family":"Zhang","sequence":"additional","affiliation":[{"name":"National Genomics Data Center, China National Center for Bioinformation , Beijing 100101 ,","place":["China"]},{"name":"Beijing Institute of Genomics, Chinese Academy of Sciences , Beijing 100101 ,","place":["China"]},{"name":"University of Chinese Academy of Sciences , Beijing 100049 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0208-5322","authenticated-orcid":false,"given":"Xiaoyue","family":"Wang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Complex, Severe, and Rare Diseases; Center for Bioinformatics, National Infrastructures for Translational Medicine, Institute of Clinical Medicine & Peking Union Medical College Hospital, Chinese Academy of Medical 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