{"title":"对分泌蛋白的变异效应的一种可推广的多重分析","authors":"","doi":"10.1038/s41594-025-01583-9","DOIUrl":null,"url":null,"abstract":"We created an assay to simultaneously measure the effects of variants in secreted proteins at scale. We used the assay to map the effects of all possible missense variants on factor IX secretion and γ-carboxylation. The resulting data reclassified more than 60% of variants of uncertain significance in hemophilia B.","PeriodicalId":18822,"journal":{"name":"Nature structural & molecular biology","volume":"53 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A generalizable multiplexed assay of variant effects for secreted proteins\",\"authors\":\"\",\"doi\":\"10.1038/s41594-025-01583-9\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"We created an assay to simultaneously measure the effects of variants in secreted proteins at scale. We used the assay to map the effects of all possible missense variants on factor IX secretion and γ-carboxylation. The resulting data reclassified more than 60% of variants of uncertain significance in hemophilia B.\",\"PeriodicalId\":18822,\"journal\":{\"name\":\"Nature structural & molecular biology\",\"volume\":\"53 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-06-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Nature structural & molecular biology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1038/s41594-025-01583-9\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nature structural & molecular biology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1038/s41594-025-01583-9","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
A generalizable multiplexed assay of variant effects for secreted proteins
We created an assay to simultaneously measure the effects of variants in secreted proteins at scale. We used the assay to map the effects of all possible missense variants on factor IX secretion and γ-carboxylation. The resulting data reclassified more than 60% of variants of uncertain significance in hemophilia B.
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