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A gradient-boosting approach for filtering de novo mutations in parent–offspring trios

Motivation: Whole-genome and -exome sequencing on parent–offspring trios is a powerful approach to identifying disease-associated genes by detecting de novo mutations in patients. Accurate detection of de novo mutations from sequencing data is a critical step in trio-based genetic studies. Existing bioinformatic approaches usually yield high error rates due to sequencing...

A Generalized Topological Entropy for Analyzing the Complexity of DNA Sequences

Topological entropy is one of the most difficult entropies to be used to analyze the DNA sequences, due to the finite sample and high-dimensionality problems. In order to overcome these problems, a generalized topological entropy is introduced. The relationship between the topological entropy and the generalized topological entropy is compared, which shows the topological entropy...

Analyzing large-scale samples confirms the association between the rs1051730 polymorphism and lung cancer susceptibility

Wang Yang Bai Rongjie Wang Renjie Tan Yadong Wang Scientific RepoRts OPEN The early genome-wide association studies (GWAS) found a significant association between lung cancer and rs1051730 (15q25

LncRNA2Function: a comprehensive resource for functional investigation of human lncRNAs based on RNA-seq data

Background The GENCODE project has collected over 10,000 human long non-coding RNA (lncRNA) genes. However, the vast majority of them remain to be functionally characterized. Computational investigation of potential functions of human lncRNA genes is helpful to guide further experimental studies on lncRNAs. Results In this study, based on expression correlation between lncRNAs...

LncRNA2Target: a database for differentially expressed genes after lncRNA knockdown or overexpression

Long non-coding RNAs (lncRNAs) have emerged as critical regulators of genes at epigenetic, transcriptional and post-transcriptional levels, yet what genes are regulated by a specific lncRNA remains to be characterized. To assess the effects of the lncRNA on gene expression, an increasing number of researchers profiled the genome-wide or individual gene expression level change...