AI Medical Compendium Topic

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Genome, Human

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HMMRATAC: a Hidden Markov ModeleR for ATAC-seq.

Nucleic acids research
ATAC-seq has been widely adopted to identify accessible chromatin regions across the genome. However, current data analysis still utilizes approaches initially designed for ChIP-seq or DNase-seq, without considering the transposase digested DNA fragm...

Promoter analysis and prediction in the human genome using sequence-based deep learning models.

Bioinformatics (Oxford, England)
MOTIVATION: Computational identification of promoters is notoriously difficult as human genes often have unique promoter sequences that provide regulation of transcription and interaction with transcription initiation complex. While there are many at...

EnsembleCNV: an ensemble machine learning algorithm to identify and genotype copy number variation using SNP array data.

Nucleic acids research
The associations between diseases/traits and copy number variants (CNVs) have not been systematically investigated in genome-wide association studies (GWASs), primarily due to a lack of robust and accurate tools for CNV genotyping. Herein, we propose...

Localizing and Classifying Adaptive Targets with Trend Filtered Regression.

Molecular biology and evolution
Identifying genomic locations of natural selection from sequence data is an ongoing challenge in population genetics. Current methods utilizing information combined from several summary statistics typically assume no correlation of summary statistics...

Gene multifunctionality scoring using gene ontology.

Journal of bioinformatics and computational biology
Multifunctional genes are important genes because of their essential roles in human cells. Studying and analyzing multifunctional genes can help understand disease mechanisms and drug discovery. We propose a computational method for scoring gene mult...

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...