AIMC Topic: Genome, Human

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CamurWeb: a classification software and a large knowledge base for gene expression data of cancer.

BMC bioinformatics
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...

A universal SNP and small-indel variant caller using deep neural networks.

Nature biotechnology
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...

iRNA-2OM: A Sequence-Based Predictor for Identifying 2'-O-Methylation Sites in Homo sapiens.

Journal of computational biology : a journal of computational molecular cell biology
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...

Epigenetic machine learning: utilizing DNA methylation patterns to predict spastic cerebral palsy.

BMC bioinformatics
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...

Role of artificial intelligence in the care of patients with nonsmall cell lung cancer.

European journal of clinical investigation
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 ...

Functional Categorization of Disease Genes Based on Spectral Graph Theory and Integrated Biological Knowledge.

Interdisciplinary sciences, computational life sciences
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...

Prediction of inherited genomic susceptibility to 20 common cancer types by a supervised machine-learning method.

Proceedings of the National Academy of Sciences of the United States of America
Prevention and early intervention are the most effective ways of avoiding or minimizing psychological, physical, and financial suffering from cancer. However, such proactive action requires the ability to predict the individual's susceptibility to ca...

Supervised Machine Learning for Population Genetics: A New Paradigm.

Trends in genetics : TIG
As population genomic datasets grow in size, researchers are faced with the daunting task of making sense of a flood of information. To keep pace with this explosion of data, computational methodologies for population genetic inference are rapidly be...

Classifying cancer genome aberrations by their mutually exclusive effects on transcription.

BMC medical genomics
BACKGROUND: Malignant tumors are typically caused by a conglomeration of genomic aberrations-including point mutations, small insertions, small deletions, and large copy-number variations. In some cases, specific chemotherapies and targeted drug trea...