AIMC Topic: Genome, Human
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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 ...
Predicting environmentally responsive transgenerational differential DNA methylated regions (epimutations) in the genome using a hybrid deep-machine learning approach.
BMC bioinformatics
Nov 30, 2021
BACKGROUND: Deep learning is an active bioinformatics artificial intelligence field that is useful in solving many biological problems, including predicting altered epigenetics such as DNA methylation regions. Deep learning (DL) can learn an informat...
Detecting immunotherapy-sensitive subtype in gastric cancer using histologic image-based deep learning.
Scientific reports
Nov 22, 2021
Immune checkpoint inhibitor (ICI) therapy is widely used but effective only in a subset of gastric cancers. Epstein-Barr virus (EBV)-positive and microsatellite instability (MSI) / mismatch repair deficient (dMMR) tumors have been reported to be high...
Deep Learning
Immunotherapy
Treatment Outcome
Herpesvirus 4, Human
Humans
Neural Networks, Computer
Immunohistochemistry
Databases, Factual
Machine Learning
Area Under Curve
Genome, Human
Reproducibility of Results
Software
Microsatellite Instability
Lymphocytosis
Stomach Neoplasms
Algorithms
DNA Mismatch Repair
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