Ober. 2017. Rare non- coding variants are associated with plasma lipid traits in a founder population. Scientific Reports: 1-13.Igartua C, Mozaffari SV, Nicolae DL, Ober C. Rare non-coding variants are associated with plasma lipid traits in a founder population. Sci Rep. 2017;7:16415.
What proportion of the heritability of Parkinson’s Disease and Alzheimer’s Disease can be explained by Genome Wide Association Study (GWAS) variants? What challenges remain in accurately identifying functional noncoding variants associated with Neurodegenerative Brain Diseases (NBDs)? How do loss-of-...
Predicting effects of noncoding variants with deep learning–based sequence model PDF Interpreting noncoding variants- 非常好的学习资料 这篇文章的第一个亮点就是直接从序列开始分析,第二就是使用深度学习获得了很好的预测效果。 This is, to our knowledge, the first approach for prioritization of functional...
ARTICLE https://doi.org/10.1038/s41467-018-08270-y OPEN Biological relevance of computationally predicted pathogenicity of noncoding variants Li Liu1, Maxwell D. Sanderford2, Ravi Patel2,3, Pramod Chandrashekar 1, Greg Gibson 4 & Sudhir Kumar2,3 Computational prediction of the phenotypic ...
variant最直接作用于coding gene的方法就是影响基因互作,如果蛋白的核心domain发生了变化, 那蛋白之间的互作是必然会受到影响的。 预测noncoding variant与基因表达的工具已经很多了,且在eQTL数据上面的表现已经不错了。 CshlSiepelLab/FitCons2 FIRE: functional inference of genetic variants that regulate gene expressi...
Computational Assessment of the Expression-modulating Potential for Noncoding Variants 史方圆 Fang-Yuan Shi ¹, 王宇 Yu Wang ¹, 黄东 Dong Huang ², Yu Liang ³, 梁楠 Nan Liang ¹, 陈晓伟 Xiao-Wei C…
associated genome variations; however, the identification of functional non-coding variants is still a challenge in human genetics, and a method for systematically assessing the impact of regulatory variants on gene expression and linking these regulatory variants to potential target genes is still ...
Unraveling functional noncoding variants associated with complex diseases is still a great challenge. We present a novel algorithm, Prioritization And Functional Assessment (PAFA), that prioritizes and assesses the functionality of genetic variants by in
Functional effects of non-coding variants can be studied by various experimental approaches. The overall role of non-coding variants in tumorigenesis is currently likely underestimated as only a handful of genome-wide studies of tumours have analysed them. However, current and future efforts involving...
s likelihood of altering splicing by combining predictions from multiple splice-scoring tools, combined with additional splicing rules, and gene architecture features. Introme can accurately predict the impact of coding and noncoding variants on splicing through investigating for the potential damage, ...