{"title":"MultiSTAAR提供生物库规模测序数据的多性状罕见变异分析。","authors":"","doi":"10.1038/s43588-025-00766-0","DOIUrl":null,"url":null,"abstract":"Identifying pleiotropic associations for rare variants in multi-ethnic biobank-scale whole-genome sequencing data poses considerable challenges. This study introduced MultiSTAAR as a scalable and robust multi-trait rare variant analysis framework designed for both coding and noncoding regions by integrating multiple variant functional annotations and leveraging multivariate modeling across diverse phenotypes.","PeriodicalId":74246,"journal":{"name":"Nature computational science","volume":"5 2","pages":"101-102"},"PeriodicalIF":12.0000,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"MultiSTAAR delivers multi-trait rare variant analysis of biobank-scale sequencing data\",\"authors\":\"\",\"doi\":\"10.1038/s43588-025-00766-0\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Identifying pleiotropic associations for rare variants in multi-ethnic biobank-scale whole-genome sequencing data poses considerable challenges. This study introduced MultiSTAAR as a scalable and robust multi-trait rare variant analysis framework designed for both coding and noncoding regions by integrating multiple variant functional annotations and leveraging multivariate modeling across diverse phenotypes.\",\"PeriodicalId\":74246,\"journal\":{\"name\":\"Nature computational science\",\"volume\":\"5 2\",\"pages\":\"101-102\"},\"PeriodicalIF\":12.0000,\"publicationDate\":\"2025-02-07\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Nature computational science\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.nature.com/articles/s43588-025-00766-0\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"COMPUTER SCIENCE, INTERDISCIPLINARY APPLICATIONS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nature computational science","FirstCategoryId":"1085","ListUrlMain":"https://www.nature.com/articles/s43588-025-00766-0","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"COMPUTER SCIENCE, INTERDISCIPLINARY APPLICATIONS","Score":null,"Total":0}
MultiSTAAR delivers multi-trait rare variant analysis of biobank-scale sequencing data
Identifying pleiotropic associations for rare variants in multi-ethnic biobank-scale whole-genome sequencing data poses considerable challenges. This study introduced MultiSTAAR as a scalable and robust multi-trait rare variant analysis framework designed for both coding and noncoding regions by integrating multiple variant functional annotations and leveraging multivariate modeling across diverse phenotypes.