AIMC Topic: Genome, Human

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Discriminating early- and late-stage cancers using multiple kernel learning on gene sets.

Bioinformatics (Oxford, England)
MOTIVATION: Identifying molecular mechanisms that drive cancers from early to late stages is highly important to develop new preventive and therapeutic strategies. Standard machine learning algorithms could be used to discriminate early- and late-sta...

Deep learning of genomic variation and regulatory network data.

Human molecular genetics
The human genome is now investigated through high-throughput functional assays, and through the generation of population genomic data. These advances support the identification of functional genetic variants and the prediction of traits (e.g. deleter...

Biomedical informatics and machine learning for clinical genomics.

Human molecular genetics
While tens of thousands of pathogenic variants are used to inform the many clinical applications of genomics, there remains limited information on quantitative disease risk for the majority of variants used in clinical practice. At the same time, ris...

Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell reports
Precision oncology uses genomic evidence to match patients with treatment but often fails to identify all patients who may respond. The transcriptome of these "hidden responders" may reveal responsive molecular states. We describe and evaluate a mach...

[Artificial Intelligence in Drug Discovery].

Gan to kagaku ryoho. Cancer & chemotherapy
According to the increase of data generated from analytical instruments, application of artificial intelligence(AI)technology in medical field is indispensable. In particular, practical application of AI technology is strongly required in "genomic me...

Machine learning annotation of human branchpoints.

Bioinformatics (Oxford, England)
MOTIVATION: The branchpoint element is required for the first lariat-forming reaction in splicing. However current catalogues of human branchpoints remain incomplete due to the difficulty in experimentally identifying these splicing elements. To addr...

Chromatin accessibility prediction via a hybrid deep convolutional neural network.

Bioinformatics (Oxford, England)
MOTIVATION: A majority of known genetic variants associated with human-inherited diseases lie in non-coding regions that lack adequate interpretation, making it indispensable to systematically discover functional sites at the whole genome level and p...

DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.

American journal of human genetics
In contrast to recessive conditions with biallelic inheritance, identification of dominant (monoallelic) mutations for Mendelian disorders is more difficult, because of the abundance of benign heterozygous variants that act as massive background nois...

Rectified factor networks for biclustering of omics data.

Bioinformatics (Oxford, England)
MOTIVATION: Biclustering has become a major tool for analyzing large datasets given as matrix of samples times features and has been successfully applied in life sciences and e-commerce for drug design and recommender systems, respectively. actor nal...