AI Medical Compendium Topic

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Relation of vitamin D and BsmI variant with temporomandibular diseases in the Turkish population.

The British journal of oral & maxillofacial surgery
Vitamin D (VD) levels and several variants in the vitamin D receptor (VDR) gene are associated with the occurrence of diseases of the bones and cartilage. The aim of this research was to study and compare the association of the BsmI variant in the VD...

Identification and validation of 174 COVID-19 vaccine candidate epitopes reveals low performance of common epitope prediction tools.

Scientific reports
The outbreak of SARS-CoV-2 (2019-nCoV) virus has highlighted the need for fast and efficacious vaccine development. Stimulation of a proper immune response that leads to protection is highly dependent on presentation of epitopes to circulating T-cell...

Transfer learning enables prediction of CYP2D6 haplotype function.

PLoS computational biology
Cytochrome P450 2D6 (CYP2D6) is a highly polymorphic gene whose protein product metabolizes more than 20% of clinically used drugs. Genetic variations in CYP2D6 are responsible for interindividual heterogeneity in drug response that can lead to drug ...

Artificial intelligence predicts the immunogenic landscape of SARS-CoV-2 leading to universal blueprints for vaccine designs.

Scientific reports
The global population is at present suffering from a pandemic of Coronavirus disease 2019 (COVID-19), caused by the novel coronavirus Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). The goal of this study was to use artificial intellige...

Creating artificial human genomes using generative neural networks.

PLoS genetics
Generative models have shown breakthroughs in a wide spectrum of domains due to recent advancements in machine learning algorithms and increased computational power. Despite these impressive achievements, the ability of generative models to create re...

A deep learning method for HLA imputation and trans-ethnic MHC fine-mapping of type 1 diabetes.

Nature communications
Conventional human leukocyte antigen (HLA) imputation methods drop their performance for infrequent alleles, which is one of the factors that reduce the reliability of trans-ethnic major histocompatibility complex (MHC) fine-mapping due to inter-ethn...

Deep learning pan-specific model for interpretable MHC-I peptide binding prediction with improved attention mechanism.

Proteins
Accurate prediction of peptide binding affinity to the major histocompatibility complex (MHC) proteins has the potential to design better therapeutic vaccines. Previous work has shown that pan-specific prediction algorithms can achieve better predict...

Interpretation of allele-specific chromatin accessibility using cell state-aware deep learning.

Genome research
Genomic sequence variation within enhancers and promoters can have a significant impact on the cellular state and phenotype. However, sifting through the millions of candidate variants in a personal genome or a cancer genome, to identify those that i...

Feasibility of predicting allele specific expression from DNA sequencing using machine learning.

Scientific reports
Allele specific expression (ASE) concerns divergent expression quantity of alternative alleles and is measured by RNA sequencing. Multiple studies show that ASE plays a role in hereditary diseases by modulating penetrance or phenotype severity. Howev...

Identification of haploinsufficient genes from epigenomic data using deep forest.

Briefings in bioinformatics
Haploinsufficiency, wherein a single allele is not enough to maintain normal functions, can lead to many diseases including cancers and neurodevelopmental disorders. Recently, computational methods for identifying haploinsufficiency have been develop...