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.
Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk The influence of genetic variation on gene expression The impact of rare variation on gene expression across tissues 这篇可以重点看,2014年的,才发现自己现在做的别人早就做过类似的了。 Analysis of Stop-Gain ...
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 ...
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...
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…
TraP outperforms leading methods in identifying non-coding variants that are pathogenic and is therefore a valuable tool for use in gene discovery and the interpretation of personal genomes. While non-coding synonymous and intronic variants are often not under strong selective constraint, they can be...
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
6 However, little is known about the target genes and regulatory mechanisms by which these risk variants act. Emerging evidence suggests that causal disease variants affecting gene expression are enriched in the enhancers of disease-relevant cell types.7 However, only a few such examples have been...
Run introme using the run command./run_introme.sh -r genome.fa -g annotation.gtf -v variants.vcf.gz -p prefix Docker Local Install A more streamlined install of introme for running locally is being developed using Docker. Running Introme ...
We developed cis-X, a computational method for discovering regulatory noncoding variants in cancer by integrating whole-genome and transcriptome sequencing data from a single cancer sample. cis-X first finds aberrantly cis-activated genes that exhibit allele-specific expression accompanied by an elevated...