AIMC Topic: Alleles

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Prediction of feature genes in trauma patients with the TNF rs1800629 A allele using support vector machine.

Computers in biology and medicine
BACKGROUND: Tumor necrosis factor (TNF)-α variant is closely linked to sepsis syndrome and mortality after severe trauma. We aimed to identify feature genes associated with the TNF rs1800629 A allele in trauma patients and help to direct them toward ...

Expanding biobank pharmacogenomics through machine learning calls of structural variation.

Genetics
Biobanks linking genetic data with clinical health records provide exciting opportunities for pharmacogenomic (PGx) research on genetic variation and drug response. Designed as central and multiuse resources, biobanks can facilitate diverse PGx resea...

Explainable artificial intelligence in forensic DNA analysis: Alleles identification in challenging electropherograms using supervised machine learning methods.

Forensic science international. Genetics
Challenging samples in capillary electrophoresis (CE)-based short tandem repeat (STR) analysis often produce artefactual signals that cannot be completely filtered out by expert electropherogram (EPG) reading systems, complicating allele interpretati...

ESMpHLA: Evolutionary Scale Model-Based Deep Learning Prediction of HLA Class I Binding Peptides.

HLA
The recognition of endogenous peptides by HLA class I plays a crucial role in CD8+ T cell immune responses and human adaptive cell immune. Thus, the prediction of HLA class I-peptide binding affinities is always the core issue for the research of imm...

Machine learning to optimize automated RH genotyping using whole-exome sequencing data.

Blood advances
Rh phenotype matching reduces but does not eliminate alloimmunization in patients with sickle cell disease (SCD) due to RH genetic diversity that is not distinguishable by serological typing. RH genotype matching can potentially mitigate Rh alloimmun...

Deep Learning-Based HLA Allele Imputation Applicable to GWAS.

Methods in molecular biology (Clifton, N.J.)
Human leukocyte antigen (HLA) imputation is an essential step following genome-wide association study, particularly when putative associations in HLA genes are identified, to fully understand the genetic basis of human traits. Different HLA imputatio...

Probing the link between the APOE-ε4 allele and whole-brain gray matter using deep learning.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
The APOE-ε4 allele is a known genetic risk for Alzheimer's disease (AD). Thus, it can be reasoned that the APOE-ε4 allele would also impact neurodegeneration-associated structural brain changes. Here we probe if the APOE-ε4 genotype directly modulate...

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...

Predicting Amyloid-β Levels in Amnestic Mild Cognitive Impairment Using Machine Learning Techniques.

Journal of Alzheimer's disease : JAD
BACKGROUND: Amyloid-β positivity (Aβ+) based on PET imaging is part of the enrollment criteria for many of the clinical trials of Alzheimer's disease (AD), particularly in trials for amyloid-targeted therapy. Predicting Aβ positivity prior to PET ima...