AIMC Topic: Genotype
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GAINSeq: glaucoma pre-symptomatic detection using machine learning models driven by next-generation sequencing data.
Scientific reports
Jul 2, 2025
Congenital glaucoma, a complex and diverse condition, presents considerable difficulties in its identification and categorization. This research used Next Generation Sequencing (NGS) whole-exome data to create a categorization framework using machine...
A genotype-to-drug diffusion model for generation of tailored anti-cancer small molecules.
Nature communications
Jul 1, 2025
Despite advances in precision oncology, developing effective cancer therapeutics remains a significant challenge due to tumor heterogeneity and the limited availability of well-defined drug targets. Recent progress in generative artificial intelligen...
Generative prediction of causal gene sets responsible for complex traits.
Proceedings of the National Academy of Sciences of the United States of America
Jun 12, 2025
The relationship between genotype and phenotype remains an outstanding question for organism-level traits because these traits are generally . The challenge arises from complex traits being determined by a combination of multiple genes (or loci), whi...
Generative AI for predictive breeding: hopes and caveats.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik
Jun 11, 2025
Among the broad area of artificial intelligence (AI), generative AI algorithms have emerged as a revolutionary technology able to produce highly realistic 'synthetic' data, akin to standard simulation but with fewer contraints. The main focus of gene...
Case-control study combined with machine learning techniques to identify key genetic variations in GSK3B that affect susceptibility to diabetic kidney diseases.
BMC endocrine disorders
Jun 5, 2025
The role of genetic susceptibility in early warning and precise treatment of diabetic kidney disease (DKD) requires further investigation. A case-control study was conducted to evaluate the predictive effect of GSK3B genetic polymorphisms on the susc...
From pixels to prognosis: leveraging radiomics and machine learning to predict IDH1 genotype in gliomas.
Neurosurgical review
Apr 29, 2025
Gliomas are the most common primary tumors of the central nervous system, and advances in genetics and molecular medicine have significantly transformed their classification and treatment. This study aims to predict the IDH1 genotype in gliomas using...
Sweet pepper yield modeling via deep learning and selection of superior genotypes using GBLUP and MGIDI.
Scientific reports
Apr 27, 2025
Intelligent knowledge about Capsicum annuum L. germplasm could lead to effective management of germplasm. Here, 29 accessions of sweet pepper were investigated in two separate randomized complete block design with three replications in the field cond...
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.
EBioMedicine
Apr 24, 2025
BACKGROUND: Decisions to split two or more phenotypic manifestations related to genetic variations within the same gene can be challenging, especially during the early stages of syndrome discovery. Genotype-based diagnostics with artificial intellige...
Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference.
Human genetics
Apr 23, 2025
Variants of Uncertain Significance (VUS) in genetic testing for hereditary diseases burden patients and clinicians, yet clinical data that could reduce VUS are underutilized due to a lack of scalable strategies. We assessed whether a machine learning...
Breaking down data silos across companies to train genome-wide predictions: A feasibility study in wheat.
Plant biotechnology journal
Apr 20, 2025
Big data, combined with artificial intelligence (AI) techniques, holds the potential to significantly enhance the accuracy of genome-wide predictions. Motivated by the success reported for wheat hybrids, we extended the scope to inbred lines by integ...
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