BACKGROUND: Exon splicing is a regulated cellular process in the transcription of protein-coding genes. Technological advancements and cost reductions in RNA sequencing have made quantitative and qualitative assessments of the transcriptome both poss...
Deep learning methods are a class of machine learning techniques capable of identifying highly complex patterns in large datasets. Here, we provide a perspective and primer on deep learning applications for genome analysis. We discuss successful appl...
Precision or personalized cancer medicine is a clinical approach that strives to customize therapies based upon the genomic profiles of individual patient tumors. Machine learning (ML) is a computational method particularly suited to the establishmen...
BACKGROUND: The high growth of Next Generation Sequencing data currently demands new knowledge extraction methods. In particular, the RNA sequencing gene expression experimental technique stands out for case-control studies on cancer, which can be ad...
Despite rapid advances in sequencing technologies, accurately calling genetic variants present in an individual genome from billions of short, errorful sequence reads remains challenging. Here we show that a deep convolutional neural network can call...
We propose an effective machine learning approach to identify group of interacting single nucleotide polymorphisms (SNPs), which contribute most to the breast cancer (BC) risk by assuming dependencies among BCAC iCOGS SNPs. We adopt a gradient tree b...
Journal of computational biology : a journal of computational molecular cell biology
Aug 16, 2018
2'-O-methylation plays an important biological role in gene expression. Owing to the explosive increase in genomic sequencing data, it is necessary to develop a method for quickly and efficiently identifying whether a sequence contains the 2'-O-methy...
BACKGROUND: Spastic cerebral palsy (CP) is a leading cause of physical disability. Most people with spastic CP are born with it, but early diagnosis is challenging, and no current biomarker platform readily identifies affected individuals. The aim of...
European journal of clinical investigation
Feb 19, 2018
BACKGROUND: Lung cancer is the leading cause of cancer death worldwide. In up to 57% of patients, it is diagnosed at an advanced stage and the 5-year survival rate ranges between 10%-16%. There has been a significant amount of research using machine ...
Interdisciplinary sciences, computational life sciences
Jan 30, 2018
Interaction of multiple genetic variants is a major challenge in the development of effective treatment strategies for complex disorders. Identifying the most promising genes enhances the understanding of the underlying mechanisms of the disease, whi...