AIMC Topic: Genome, Human

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HIPred: an integrative approach to predicting haploinsufficient genes.

Bioinformatics (Oxford, England)
MOTIVATION: A major cause of autosomal dominant disease is haploinsufficiency, whereby a single copy of a gene is not sufficient to maintain the normal function of the gene. A large proportion of existing methods for predicting haploinsufficiency inc...

A Sparse Learning Framework for Joint Effect Analysis of Copy Number Variants.

IEEE/ACM transactions on computational biology and bioinformatics
Copy number variants (CNVs), including large deletions and duplications, represent an unbalanced change of DNA segments. Abundant in human genomes, CNVs contribute to a large proportion of human genetic diversity, with impact on many human phenotypes...

DEEP MOTIF DASHBOARD: VISUALIZING AND UNDERSTANDING GENOMIC SEQUENCES USING DEEP NEURAL NETWORKS.

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
Deep neural network (DNN) models have recently obtained state-of-the-art prediction accuracy for the transcription factor binding (TFBS) site classification task. However, it remains unclear how these approaches identify meaningful DNA sequence signa...

The drug target genes show higher evolutionary conservation than non-target genes.

Oncotarget
Although evidence indicates that drug target genes share some common evolutionary features, there have been few studies analyzing evolutionary features of drug targets from an overall level. Therefore, we conducted an analysis which aimed to investig...

Genome-wide discovery of miRNAs using ensembles of machine learning algorithms and logistic regression.

International journal of data mining and bioinformatics
In silico prediction of novel miRNAs from genomic sequences remains a challenging problem. This study presents a genome-wide miRNA discovery software package called GenoScan and evaluates two hairpin classification methods. These methods, one ensembl...