AIMC Topic: Genome, Human
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A hybrid metaheuristic-deep learning technique for the pan-classification of cancer based on DNA methylation.
BMC bioinformatics
Jul 11, 2022
BACKGROUND: DNA Methylation is one of the most important epigenetic processes that are crucial to regulating the functioning of the human genome without altering the DNA sequence. DNA Methylation data for cancer patients are becoming more accessible ...
THRONE: A New Approach for Accurate Prediction of Human RNA N7-Methylguanosine Sites.
Journal of molecular biology
Mar 16, 2022
N-methylguanosine (m7G) is an essential, ubiquitous, and positively charged modification at the 5' cap of eukaryotic mRNA, modulating its export, translation, and splicing processes. Although several machine learning (ML)-based computational predicto...
DeepCAGE: Incorporating Transcription Factors in Genome-wide Prediction of Chromatin Accessibility.
Genomics, proteomics & bioinformatics
Mar 12, 2022
Although computational approaches have been complementing high-throughput biological experiments for the identification of functional regions in the human genome, it remains a great challenge to systematically decipher interactions between transcript...
From shallow to deep: some lessons learned from application of machine learning for recognition of functional genomic elements in human genome.
Human genomics
Feb 18, 2022
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 machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization.
Scientific reports
Feb 15, 2022
Genomic variant interpretation is a critical step of the diagnostic procedure, often supported by the application of tools that may predict the damaging impact of each variant or provide a guidelines-based classification. We propose the application o...
Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric Neurology.
Genes
Feb 11, 2022
During the last decade, genetic testing has emerged as an important etiological diagnostic tool for Mendelian diseases, including pediatric neurological conditions. A genetic diagnosis has a considerable impact on disease management and treatment; ho...
Genetic data sharing and artificial intelligence in the era of personalized medicine based on a cross-sectional analysis of the Saudi human genome program.
Scientific reports
Jan 26, 2022
The success of the Saudi Human Genome Program (SHGP), one of the top ten genomic programs worldwide, is highly dependent on the Saudi population embracing the concept of participating in genetic testing. However, genetic data sharing and artificial i...
StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants.
American journal of human genetics
Jan 14, 2022
Whole-genome sequencing resolves many clinical cases where standard diagnostic methods have failed. However, at least half of these cases remain unresolved after whole-genome sequencing. Structural variants (SVs; genomic variants larger than 50 base ...
GapPredict - A Language Model for Resolving Gaps in Draft Genome Assemblies.
IEEE/ACM transactions on computational biology and bioinformatics
Dec 8, 2021
Short-read DNA sequencing instruments can yield over 10 bases per run, typically composed of reads 150 bases long. Despite this high throughput, de novo assembly algorithms have difficulty reconstructing contiguous genome sequences using short reads ...
A Novel Feature Selection Method for Uncertain Features: An Application to the Prediction of Pro-/Anti-Longevity Genes.
IEEE/ACM transactions on computational biology and bioinformatics
Dec 8, 2021
Understanding the ageing process is a very challenging problem for biologists. To help in this task, there has been a growing use of classification methods (from machine learning) to learn models that predict whether a gene influences the process of ...
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