You Chen, Mauricio I Paramo, Yingying Zhang, Li Yao, Sagar R Shah, Yiyang Jin, Junke Zhang, Xiuqi Pan, Haiyuan Yu
{"title":"Finding Needles in the Haystack: Strategies for Uncovering Noncoding Regulatory Variants.","authors":"You Chen, Mauricio I Paramo, Yingying Zhang, Li Yao, Sagar R Shah, Yiyang Jin, Junke Zhang, Xiuqi Pan, Haiyuan Yu","doi":"10.1146/annurev-genet-030723-120717","DOIUrl":null,"url":null,"abstract":"<p><p>Despite accumulating evidence implicating noncoding variants in human diseases, unraveling their functionality remains a significant challenge. Systematic annotations of the regulatory landscape and the growth of sequence variant data sets have fueled the development of tools and methods to identify causal noncoding variants and evaluate their regulatory effects. Here, we review the latest advances in the field and discuss potential future research avenues to gain a more in-depth understanding of noncoding regulatory variants.</p>","PeriodicalId":8035,"journal":{"name":"Annual review of genetics","volume":" ","pages":"201-222"},"PeriodicalIF":8.7000,"publicationDate":"2023-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annual review of genetics","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1146/annurev-genet-030723-120717","RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/8/10 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Despite accumulating evidence implicating noncoding variants in human diseases, unraveling their functionality remains a significant challenge. Systematic annotations of the regulatory landscape and the growth of sequence variant data sets have fueled the development of tools and methods to identify causal noncoding variants and evaluate their regulatory effects. Here, we review the latest advances in the field and discuss potential future research avenues to gain a more in-depth understanding of noncoding regulatory variants.
期刊介绍：
The Annual Review of Genetics, published since 1967, comprehensively covers significant advancements in genetics. It encompasses various areas such as biochemical, behavioral, cell, and developmental genetics, evolutionary and population genetics, chromosome structure and transmission, gene function and expression, mutation and repair, genomics, immunogenetics, and other topics related to the genetics of viruses, bacteria, fungi, plants, animals, and humans.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
