AI Medical Compendium Journal:
Human genomics

Showing 1 to 10 of 14 articles

Data stewardship and curation practices in AI-based genomics and automated microscopy image analysis for high-throughput screening studies: promoting robust and ethical AI applications.

Human genomics
BACKGROUND: Researchers have increasingly adopted AI and next-generation sequencing (NGS), revolutionizing genomics and high-throughput screening (HTS), and transforming our understanding of cellular processes and disease mechanisms. However, these a...

Analysis of public perceptions on the use of artificial intelligence in genomic medicine.

Human genomics
PURPOSE: Next generation sequencing has led to the creation of large pools of genomic data with analysis rather than data generation now the limiting factor. Artificial intelligence (AI) may be required to optimize the benefits of these data, but lit...

AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genes.

Human genomics
Single nucleotide variants (SNVs) can exert substantial and extremely variable impacts on various cellular functions, making accurate predictions of their consequences challenging, albeit crucial especially in clinical settings such as in oncology. L...

Rapid discrimination between deleterious and benign missense mutations in the CAGI 6 experiment.

Human genomics
We describe the machine learning tool that we applied in the CAGI 6 experiment to predict whether single residue mutations in proteins are deleterious or benign. This tool was trained using only single sequences, i.e., without multiple sequence align...

Deep learning-based pathway-centric approach to characterize recurrent hepatocellular carcinoma after liver transplantation.

Human genomics
BACKGROUND: Liver transplantation (LT) is offered as a cure for Hepatocellular carcinoma (HCC), however 15-20% develop recurrence post-transplant which tends to be aggressive. In this study, we examined the transcriptome profiles of patients with rec...

Pharmacovariome scanning using whole pharmacogene resequencing coupled with deep computational analysis and machine learning for clinical pharmacogenomics.

Human genomics
BACKGROUND: This pilot study aims to identify and functionally assess pharmacovariants in whole exome sequencing data. While detection of known variants has benefited from pharmacogenomic-dedicated bioinformatics tools before, in this paper we have t...

A review of deep learning applications in human genomics using next-generation sequencing data.

Human genomics
Genomics is advancing towards data-driven science. Through the advent of high-throughput data generating technologies in human genomics, we are overwhelmed with the heap of genomic data. To extract knowledge and pattern out of this genomic data, arti...

From shallow to deep: some lessons learned from application of machine learning for recognition of functional genomic elements in human genome.

Human genomics
Identification of genomic signals as indicators for functional genomic elements is one of the areas that received early and widespread application of machine learning methods. With time, the methods applied grew in variety and generally exhibited a t...

A robust and stable gene selection algorithm based on graph theory and machine learning.

Human genomics
BACKGROUND: Nowadays we are observing an explosion of gene expression data with phenotypes. It enables us to accurately identify genes responsible for certain medical condition as well as classify them for drug target. Like any other phenotype data i...

Network machine learning maps phytochemically rich "Hyperfoods" to fight COVID-19.

Human genomics
In this paper, we introduce a network machine learning method to identify potential bioactive anti-COVID-19 molecules in foods based on their capacity to target the SARS-CoV-2-host gene-gene (protein-protein) interactome. Our analyses were performed ...