AIMC Topic: Alleles

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Assessing data size requirements for training generalizable sequence-based TCR specificity models via pan-allelic MHC-I point-mutation ligandome evaluation.

Scientific reports
Rapid identification of T cell receptors (TCRs) that specifically bind patient-unique neoepitopes is a critical challenge for personalized TCR-based therapies in oncology. Due to enormous diversity of both TCR and neoepitope repertoires, a machine le...

Integrating machine learning for rapid and accurate multiplex identification of the allelic variants in single nucleotide polymorphisms by lateral flow genotyping assays.

Biosensors & bioelectronics
Single nucleotide polymorphisms (SNPs) are widely used in precision medicine, disease predisposition assessment, nutrigenetics and authenticity testing of agricultural and food products. SNP genotyping is much more challenging than detecting longer D...

Integrating genetic variation with deep learning provides context for variants impacting transcription factor binding during embryogenesis.

Genome research
Understanding how genetic variation impacts transcription factor (TF) binding remains a major challenge, limiting our ability to model disease-associated variants. Here, we used a highly controlled system of F crosses with extensive genetic diversity...

SVLearn: a dual-reference machine learning approach enables accurate cross-species genotyping of structural variants.

Nature communications
Structural variations (SVs) are diverse forms of genetic alterations and drive a wide range of human diseases. Accurately genotyping SVs, particularly occurring at repetitive genomic regions, from short-read sequencing data remains challenging. Here,...

Machine learning enhanced immunologic risk assessments for solid organ transplantation.

Scientific reports
The purpose of this study was to enhance the prediction of solid-organ recipient and donor crossmatch compatibility by applying machine learning (ML). Prediction of crossmatch compatibility is complex and requires an understanding of the recipient an...

A machine learning approach to predict treatment efficacy and adverse effects in major depression using CYP2C19 and clinical-environmental predictors.

Psychiatric genetics
BACKGROUND: Major depressive disorder (MDD) is among the leading causes of disability worldwide and treatment efficacy is variable across patients. Polymorphisms in cytochrome P450 2C19 (CYP2C19) play a role in response and side effects to medication...

LRMAHpan: a novel tool for multi-allelic HLA presentation prediction using Resnet-based and LSTM-based neural networks.

Frontiers in immunology
INTRODUCTION: The identification of peptides eluted from HLA complexes by mass spectrometry (MS) can provide critical data for deep learning models of antigen presentation prediction and promote neoantigen vaccine design. A major challenge remains in...

Machine learning-based classification reveals distinct clusters of non-coding genomic allelic variations associated with Erm-mediated antibiotic resistance.

mSystems
UNLABELLED: The erythromycin resistance RNA methyltransferase () confers cross-resistance to all therapeutically important macrolides, lincosamides, and streptogramins (MLS phenotype). The expression of is often induced by the macrolide-mediated rib...

Fundamentals for predicting transcriptional regulations from DNA sequence patterns.

Journal of human genetics
Cell-type-specific regulatory elements, cataloged through extensive experiments and bioinformatics in large-scale consortiums, have enabled enrichment analyses of genetic associations that primarily utilize positional information of the regulatory el...

Evaluating NetMHCpan performance on non-European HLA alleles not present in training data.

Frontiers in immunology
Bias in neural network model training datasets has been observed to decrease prediction accuracy for groups underrepresented in training data. Thus, investigating the composition of training datasets used in machine learning models with healthcare ap...