AIMC Topic: Phenotype

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Haplotype stacking to improve stability of stripe rust resistance in wheat.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik
Genotype-by-environment interaction analysis and haplotype-level characterisation provide novel insights into the stability of stripe rust resistance. Breeding selection strategies are proposed to achieve rapid and stable genetic gains across environ...

An injury-associated lobular microniche is associated with the classical tumor cell phenotype in pancreatic cancer.

Nature communications
Pancreatic cancer is an aggressive disease with a dense fibrotic stroma and is often accompanied by chronic inflammation. Peritumoral inflammation is typically viewed as a reaction to nearby tumor growth. Here, we report that the inflamed pancreatic ...

InfEHR: Clinical phenotype resolution through deep geometric learning on electronic health records.

Nature communications
Electronic health records contain multimodal data that can inform clinical decisions but are often unsuited for advanced machine learning analyses due to lack of labeled data. Here, we present InfEHR, a framework to automatically compute clinical lik...

Graph neural networks learn emergent tissue properties from spatial molecular profiles.

Nature communications
Tissue phenotypes, such as metabolic states, inflammation, and tumor properties, emerge from both molecular states and spatial cell organization. Spatial molecular assays provide an unbiased view of tissue architecture, enabling phenotype prediction....

Next-generation translational genomics for developing future crops.

Functional & integrative genomics
Advancements in translational genomics have revolutionized crop breeding, driving us from traditional breeding methods towards next-generation strategies that integrate genomic, transcriptomic, and phenotypic data to expedite crop improvement. There ...

MorphoITH: a framework for deconvolving intra-tumor heterogeneity using tissue morphology.

Genome medicine
BACKGROUND: Tumor evolution, driven by the emergence of genetically and epigenetically distinct subclones, enables cancers to adapt to selective pressures and become more aggressive, posing a major challenge in oncology. Multi-regional sequencing has...

AI-assisted phenotyping in a zebrafish hypophosphatasia model enables early and precise detection of skeletal alterations.

Scientific reports
Hypophosphatasia (HPP) is a rare genetic disorder mainly affecting bone and tooth mineralization in patients due to ALPL gene mutations. Understanding genotype-phenotype correlations in HPP remains challenging due to different severities and the dise...

Multimodal MRI analysis selecting key brain features for machine learning based classification of diabetic neuropathic pain and phenotypes.

Journal of the neurological sciences
Cerebral alterations are associated with diabetic peripheral neuropathy (DPN) and neuropathic pain, including reductions in brain volumes, cortical thickness, sulcus depth, and alterations in metabolites and functional connectivity. This study combin...

Potential of Proteomics in Forensic Phenotyping: A Focus on Biological Sex Estimation.

Journal of proteome research
Forensic DNA analysis is well established for phenotyping, providing valuable investigative leads. Proteomics, the large-scale study of proteins, is emerging as a complementary tool to DNA analysis, particularly for enhancing the evidential value of ...

Phenotypic Selectivity of Artificial Intelligence-Enhanced Electrocardiography in Cardiovascular Diagnosis and Risk Prediction.

Circulation
BACKGROUND: Artificial intelligence (AI)-enhanced ECG (AI-ECG) models are often designed to detect specific anatomical and functional cardiac abnormalities. Understanding the selectivity of their phenotypic associations is essential to inform their c...