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DOI | 10.1038/ncomms15250 |
Biological relevance of computationally predicted pathogenicity of noncoding variants | |
Liu, Li1; Sanderford, Maxwell D.2; Patel, Ravi2,3; Chandrashekar, Pramod1; Gibson, Greg4; Kumar, Sudhir2,3 | |
2019-01-18 | |
发表期刊 | NATURE COMMUNICATIONS |
ISSN | 2041-1723 |
出版年 | 2019 |
卷号 | 10 |
文章类型 | Article |
语种 | 英语 |
国家 | USA |
英文摘要 | Computational prediction of the phenotypic propensities of noncoding single nucleotide variants typically combines annotation of genomic, functional and evolutionary attributes into a single score. Here, we evaluate if the claimed excellent accuracies of these predictions translate into high rates of success in addressing questions important in biological research, such as fine mapping causal variants, distinguishing pathogenic allele(s) at a given position, and prioritizing variants for genetic risk assessment. A significant disconnect is found to exist between the statistical modelling and biological performance of predictive approaches. We discuss fundamental reasons underlying these deficiencies and suggest that future improvements of computational predictions need to address confounding of allelic, positional and regional effects as well as imbalance of the proportion of true positive variants in candidate lists. |
领域 | 资源环境 |
收录类别 | SCI-E |
WOS记录号 | WOS:000456012000002 |
WOS关键词 | GENOME-WIDE ASSOCIATION ; FUNCTIONAL ANNOTATION ; SEQUENCE VARIANTS ; EXPRESSION ; IDENTIFICATION ; NUCLEOTIDE ; ELEMENTS ; CONSERVATION ; CONSEQUENCES ; INDIVIDUALS |
WOS类目 | Multidisciplinary Sciences |
WOS研究方向 | Science & Technology - Other Topics |
URL | 查看原文 |
引用统计 | |
文献类型 | 期刊论文 |
条目标识符 | http://119.78.100.173/C666/handle/2XK7JSWQ/203314 |
专题 | 资源环境科学 |
作者单位 | 1.Arizona State Univ, Biodesign Inst, Coll Hlth Solut, Tempe, AZ USA; 2.Temple Univ, Inst Genom & Evolutionary Med, Philadelphia, PA 19122 USA; 3.Temple Univ, Dept Biol, Philadelphia, PA 19122 USA; 4.Georgia Inst Technol, Sch Biol Sci, Atlanta, GA 30332 USA |
推荐引用方式 GB/T 7714 | Liu, Li,Sanderford, Maxwell D.,Patel, Ravi,et al. Biological relevance of computationally predicted pathogenicity of noncoding variants[J]. NATURE COMMUNICATIONS,2019,10. |
APA | Liu, Li,Sanderford, Maxwell D.,Patel, Ravi,Chandrashekar, Pramod,Gibson, Greg,&Kumar, Sudhir.(2019).Biological relevance of computationally predicted pathogenicity of noncoding variants.NATURE COMMUNICATIONS,10. |
MLA | Liu, Li,et al."Biological relevance of computationally predicted pathogenicity of noncoding variants".NATURE COMMUNICATIONS 10(2019). |
条目包含的文件 | 条目无相关文件。 |
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