{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T19:40:03Z","timestamp":1790278803949,"version":"4.1.0"},"reference-count":169,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:00:00Z","timestamp":1756425600000},"content-version":"vor","delay-in-days":240,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["DE027983"],"award-info":[{"award-number":["DE027983"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["DE023575"],"award-info":[{"award-number":["DE023575"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["DE033016"],"award-info":[{"award-number":["DE033016"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["DE027362"],"award-info":[{"award-number":["DE027362"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82322014"],"award-info":[{"award-number":["82322014"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>Over the past decade, genome\u2010wide association studies (GWASs) have found genetic variants associated with elevated risk for nonsyndromic orofacial cleft (NSOFC). In the post\u2010GWAS era of NSOFC genetic research, an important aim is to identify the pathogenic variants that influence craniofacial development processes, towards understanding how they lead to disease manifestation. However, two major challenges hinder the translation of GWAS results into a mechanistic understanding. Firstly, it is uncertain whether the variants pinpointed by GWAS represent the underlying pathogenic variants; secondly, the bulk of genetic variants identified through GWAS are situated in noncoding regions of the genome, complicating their biological interpretation. Presently, research on noncoding genetic variants associated with NSOFC predominantly centers on variants located in transcriptional regulatory elements. These variants modulate transcription, subsequently altering the expression of downstream target genes and disrupting gene regulatory networks. We provide a systematic summary of the recent NSOFC\u2010associated GWAS findings for the first time. With a particular focus on variants located in noncoding regions, we delve into current statistical methods and functional approaches for identifying and validating causal variants, aiming to bridge the gap between genetic variants identified by GWAS and their underlying pathogenic mechanism responsible for NSOFC. Deciphering causal variants underlying NSOFC offers valuable clinical insights that may advance early diagnosis, enhance risk stratification, and facilitate the discovery of novel therapeutic targets.<\/jats:p>","DOI":"10.1155\/humu\/6824122","type":"journal-article","created":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T07:36:25Z","timestamp":1756452985000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft"],"prefix":"10.1155","volume":"2025","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-3833-256X","authenticated-orcid":false,"given":"Siying","family":"Zhu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6245-5818","authenticated-orcid":false,"given":"Hongxu","family":"Tao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4207-9100","authenticated-orcid":false,"given":"Robert A.","family":"Cornell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9947-6687","authenticated-orcid":false,"given":"Huan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,8,29]]},"reference":[{"key":"e_1_2_12_1_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31381"},{"key":"e_1_2_12_2_2","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2022.621261"},{"key":"e_1_2_12_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2933"},{"key":"e_1_2_12_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/345997"},{"key":"e_1_2_12_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.333"},{"key":"e_1_2_12_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.06.020"},{"key":"e_1_2_12_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.580"},{"key":"e_1_2_12_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.506"},{"key":"e_1_2_12_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms7414"},{"key":"e_1_2_12_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw104"},{"key":"e_1_2_12_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.02.014"},{"key":"e_1_2_12_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms14364"},{"key":"e_1_2_12_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy402"},{"key":"e_1_2_12_14_2","doi-asserted-by":"publisher","DOI":"10.1177\/0022034520943867"},{"key":"e_1_2_12_15_2","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.621482"},{"key":"e_1_2_12_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-024-53634-2"},{"key":"e_1_2_12_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jgg.2022.02.004"},{"key":"e_1_2_12_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.xhgg.2023.100234"},{"key":"e_1_2_12_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/imt2.262"},{"key":"e_1_2_12_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2360"},{"key":"e_1_2_12_21_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005914"},{"key":"e_1_2_12_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/srep38872"},{"key":"e_1_2_12_23_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1754-7"},{"key":"e_1_2_12_24_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx012"},{"key":"e_1_2_12_25_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13141"},{"key":"e_1_2_12_26_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1008357"},{"key":"e_1_2_12_27_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes10121023"},{"key":"e_1_2_12_28_2","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.15878"},{"key":"e_1_2_12_29_2","doi-asserted-by":"publisher","DOI":"10.1177\/0022034514523987"},{"key":"e_1_2_12_30_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes11111280"},{"key":"e_1_2_12_31_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.xhgg.2021.100038"},{"key":"e_1_2_12_32_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1009584"},{"key":"e_1_2_12_33_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2226"},{"key":"e_1_2_12_34_2","volume-title":"Multi-Ancestry Genome Wide Association Study Meta-Analysis of Non-Syndromic Orofacial Clefts","author":"Jia Z.","year":"2024"},{"key":"e_1_2_12_35_2","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.22564"},{"key":"e_1_2_12_36_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.isci.2025.111829"},{"key":"e_1_2_12_37_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.608"},{"key":"e_1_2_12_38_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3390"},{"key":"e_1_2_12_39_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0903103106"},{"key":"e_1_2_12_40_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2884"},{"key":"e_1_2_12_41_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-019-0127-1"},{"key":"e_1_2_12_42_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature08494"},{"key":"e_1_2_12_43_2","doi-asserted-by":"publisher","DOI":"10.1177\/0022034514527617"},{"key":"e_1_2_12_44_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23859"},{"key":"e_1_2_12_45_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-025-00847-w"},{"key":"e_1_2_12_46_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-018-0016-z"},{"key":"e_1_2_12_47_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3538"},{"key":"e_1_2_12_48_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-020-00303-x"},{"key":"e_1_2_12_49_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1502214"},{"key":"e_1_2_12_50_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature13138"},{"key":"e_1_2_12_51_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.06.014"},{"key":"e_1_2_12_52_2","doi-asserted-by":"publisher","DOI":"10.1002\/wrna.1474"},{"key":"e_1_2_12_53_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.82"},{"key":"e_1_2_12_54_2","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2010-11-3-r29"},{"key":"e_1_2_12_55_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg.2015.3"},{"key":"e_1_2_12_56_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-016-0974-4"},{"key":"e_1_2_12_57_2","doi-asserted-by":"publisher","DOI":"10.1093\/ije\/dyr178"},{"key":"e_1_2_12_58_2","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.17762"},{"key":"e_1_2_12_59_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature12787"},{"key":"e_1_2_12_60_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-083117-021641"},{"key":"e_1_2_12_61_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature13394"},{"key":"e_1_2_12_62_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.05.018"},{"key":"e_1_2_12_63_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-022-15885-1"},{"key":"e_1_2_12_64_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-019-02099-1"},{"key":"e_1_2_12_65_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.xhgg.2022.100166"},{"key":"e_1_2_12_66_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddac037"},{"key":"e_1_2_12_67_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.947126"},{"key":"e_1_2_12_68_2","doi-asserted-by":"publisher","DOI":"10.1177\/0022034516678829"},{"key":"e_1_2_12_69_2","doi-asserted-by":"publisher","DOI":"10.1111\/odi.14210"},{"key":"e_1_2_12_70_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22827"},{"key":"e_1_2_12_71_2","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-023-01137-1"},{"key":"e_1_2_12_72_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.01.004"},{"key":"e_1_2_12_73_2","doi-asserted-by":"publisher","DOI":"10.1177\/00220345231165210"},{"key":"e_1_2_12_74_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.02.013"},{"key":"e_1_2_12_75_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12823"},{"key":"e_1_2_12_76_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0908094"},{"key":"e_1_2_12_77_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms14759"},{"key":"e_1_2_12_78_2","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-017-0397-4"},{"key":"e_1_2_12_79_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00784-018-2350-0"},{"key":"e_1_2_12_80_2","doi-asserted-by":"publisher","DOI":"10.1111\/odi.13139"},{"key":"e_1_2_12_81_2","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.51325"},{"key":"e_1_2_12_82_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0549-4"},{"key":"e_1_2_12_83_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-025-61734-w"},{"key":"e_1_2_12_84_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bth457"},{"key":"e_1_2_12_85_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2213"},{"key":"e_1_2_12_86_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2435"},{"key":"e_1_2_12_87_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005535"},{"key":"e_1_2_12_88_2","doi-asserted-by":"publisher","DOI":"10.1177\/0022034517735805"},{"key":"e_1_2_12_89_2","doi-asserted-by":"publisher","DOI":"10.1111\/odi.13699"},{"key":"e_1_2_12_90_2","doi-asserted-by":"publisher","DOI":"10.3390\/cells11203281"},{"key":"e_1_2_12_91_2","doi-asserted-by":"publisher","DOI":"10.3290\/j.cjdr.b5136745"},{"key":"e_1_2_12_92_2","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.2288"},{"key":"e_1_2_12_93_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41596-022-00692-9"},{"key":"e_1_2_12_94_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22606"},{"key":"e_1_2_12_95_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv614"},{"key":"e_1_2_12_96_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24219"},{"key":"e_1_2_12_97_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41368-022-00194-0"},{"key":"e_1_2_12_98_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00281-021-00906-4"},{"key":"e_1_2_12_99_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2016.09.037"},{"key":"e_1_2_12_100_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.coi.2020.09.002"},{"key":"e_1_2_12_101_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.00350"},{"key":"e_1_2_12_102_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gpb.2018.07.005"},{"key":"e_1_2_12_103_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00784-020-03433-y"},{"key":"e_1_2_12_104_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24054557"},{"key":"e_1_2_12_105_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1003711"},{"key":"e_1_2_12_106_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkr064"},{"key":"e_1_2_12_107_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0160-6"},{"key":"e_1_2_12_108_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1016"},{"key":"e_1_2_12_109_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13024-021-00449-0"},{"key":"e_1_2_12_110_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv260"},{"key":"e_1_2_12_111_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000130"},{"key":"e_1_2_12_112_2","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.114.167908"},{"key":"e_1_2_12_113_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature11247"},{"key":"e_1_2_12_114_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btw203"},{"key":"e_1_2_12_115_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23185"},{"key":"e_1_2_12_116_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_12_117_2","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2012.269"},{"key":"e_1_2_12_118_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.01.003"},{"key":"e_1_2_12_119_2","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23076"},{"key":"e_1_2_12_120_2","doi-asserted-by":"publisher","DOI":"10.1177\/0022034517726079"},{"key":"e_1_2_12_121_2","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23596"},{"key":"e_1_2_12_122_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.242"},{"key":"e_1_2_12_123_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt647"},{"key":"e_1_2_12_124_2","doi-asserted-by":"publisher","DOI":"10.1177\/00220345211038203"},{"key":"e_1_2_12_125_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks389"},{"key":"e_1_2_12_126_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku1396"},{"key":"e_1_2_12_127_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.155"},{"key":"e_1_2_12_128_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2971"},{"key":"e_1_2_12_129_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv047"},{"key":"e_1_2_12_130_2","doi-asserted-by":"publisher","DOI":"10.1177\/00220345251334385"},{"key":"e_1_2_12_131_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2010.08.014"},{"key":"e_1_2_12_132_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.329"},{"key":"e_1_2_12_133_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2018.03.017"},{"key":"e_1_2_12_134_2","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.117.300535"},{"key":"e_1_2_12_135_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-014-1503-8"},{"key":"e_1_2_12_136_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp368"},{"key":"e_1_2_12_137_2","doi-asserted-by":"publisher","DOI":"10.1177\/0022034514534444"},{"key":"e_1_2_12_138_2","doi-asserted-by":"publisher","DOI":"10.1177\/0022034517729819"},{"key":"e_1_2_12_139_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.04.009"},{"key":"e_1_2_12_140_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41580-018-0028-8"},{"key":"e_1_2_12_141_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006292"},{"key":"e_1_2_12_142_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0159-z"},{"key":"e_1_2_12_143_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2016.04.048"},{"key":"e_1_2_12_144_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.185033.114"},{"key":"e_1_2_12_145_2","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2006.230"},{"key":"e_1_2_12_146_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2019.10.006"},{"key":"e_1_2_12_147_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41592-020-0907-8"},{"key":"e_1_2_12_148_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1232542"},{"key":"e_1_2_12_149_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0455-2"},{"key":"e_1_2_12_150_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.163519.113"},{"key":"e_1_2_12_151_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-019-1894-x"},{"key":"e_1_2_12_152_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.01.001"},{"key":"e_1_2_12_153_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature17946"},{"key":"e_1_2_12_154_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature24644"},{"key":"e_1_2_12_155_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-019-1711-4"},{"key":"e_1_2_12_156_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng985"},{"key":"e_1_2_12_157_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1894"},{"key":"e_1_2_12_158_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI71946"},{"key":"e_1_2_12_159_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0494-348"},{"key":"e_1_2_12_160_2","doi-asserted-by":"publisher","DOI":"10.1038\/74155"},{"key":"e_1_2_12_161_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-024-01921-5"},{"key":"e_1_2_12_162_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-022-05094-1"},{"key":"e_1_2_12_163_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-023-05795-1"},{"key":"e_1_2_12_164_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.xhgg.2024.100322"},{"key":"e_1_2_12_165_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3331"},{"key":"e_1_2_12_166_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-024-08070-z"},{"key":"e_1_2_12_167_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioadv\/vbad002"},{"key":"e_1_2_12_168_2","doi-asserted-by":"publisher","DOI":"10.1093\/bib\/bbae446"},{"key":"e_1_2_12_169_2","doi-asserted-by":"publisher","DOI":"10.1038\/d41586-025-01998-w"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/humu\/6824122","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T07:36:27Z","timestamp":1756452987000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/humu\/6824122"}},"subtitle":[],"editor":[{"given":"Aziz ur Rehman","family":"Aziz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":169,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1155\/humu\/6824122"],"URL":"https:\/\/doi.org\/10.1155\/humu\/6824122","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2025-02-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-07","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-29","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"6824122"}}