Unlocking precision medicine: clinical applications of integrating health records, genetics, and immunology through artificial intelligence DOI Creative Commons
Yiming Chen, Tzu‐Hung Hsiao, Ching‐Heng Lin

и другие.

Journal of Biomedical Science, Год журнала: 2025, Номер 32(1)

Опубликована: Фев. 7, 2025

Abstract Artificial intelligence (AI) has emerged as a transformative force in precision medicine, revolutionizing the integration and analysis of health records, genetics, immunology data. This comprehensive review explores clinical applications AI-driven analytics unlocking personalized insights for patients with autoimmune rheumatic diseases. Through synergistic approach integrating AI across diverse data sets, clinicians gain holistic view patient potential risks. Machine learning models excel at identifying high-risk patients, predicting disease activity, optimizing therapeutic strategies based on clinical, genomic, immunological profiles. Deep techniques have significantly advanced variant calling, pathogenicity prediction, splicing analysis, MHC-peptide binding predictions genetics. AI-enabled including dimensionality reduction, cell population identification, sample classification, provides unprecedented into complex immune responses. The highlights real-world examples medicine platforms decision support tools rheumatology. Evaluation outcomes demonstrates benefits impact these approaches care. However, challenges such quality, privacy, clinician trust must be navigated successful implementation. future lies continued research, development, to unlock care drive innovation

Язык: Английский

Predictomes, a classifier-curated database of AlphaFold-modeled protein-protein interactions DOI Creative Commons
E. Schmid, Johannes C. Walter

Molecular Cell, Год журнала: 2025, Номер unknown

Опубликована: Фев. 1, 2025

Protein-protein interactions (PPIs) are ubiquitous in biology, yet a comprehensive structural characterization of the PPIs underlying cellular processes is lacking. AlphaFold-Multimer (AF-M) has potential to fill this knowledge gap, but standard AF-M confidence metrics do not reliably separate relevant from an abundance false positive predictions. To address limitation, we used machine learning on curated datasets train structure prediction and omics-informed classifier (SPOC) that effectively separates true predictions PPIs, including proteome-wide screens. We applied SPOC all-by-all matrix nearly 300 human genome maintenance proteins, generating ∼40,000 can be viewed at predictomes.org, where users also score their own with SPOC. High-confidence discovered using our approach enable hypothesis generation maintenance. Our results provide framework for interpreting large-scale screens help lay foundation interactome.

Язык: Английский

Процитировано

4

Structure-based self-supervised learning enables ultrafast protein stability prediction upon mutation DOI Creative Commons
Jinyuan Sun, Tong Zhu, Yinglu Cui

и другие.

The Innovation, Год журнала: 2025, Номер 6(1), С. 100750 - 100750

Опубликована: Янв. 1, 2025

Predicting free energy changes (ΔΔG) is essential for enhancing our understanding of protein evolution and plays a pivotal role in engineering pharmaceutical development. While traditional methods offer valuable insights, they are often constrained by computational speed reliance on biased training datasets. These constraints become particularly evident when aiming accurate ΔΔG predictions across diverse array sequences. Herein, we introduce Pythia, self-supervised graph neural network specifically designed zero-shot predictions. Our comparative benchmarks demonstrate that Pythia outperforms other pretraining models force field-based approaches while also exhibiting competitive performance with fully supervised models. Notably, shows strong correlations achieves remarkable increase up to 105-fold. We further validated Pythia's predicting the thermostabilizing mutations limonene epoxide hydrolase, leading higher experimental success rates. This exceptional efficiency has enabled us explore 26 million high-quality structures, marking significant advancement ability navigate sequence space enhance relationships between genotype phenotype. In addition, established web server at https://pythia.wulab.xyz allow users easily perform such

Язык: Английский

Процитировано

3

Saturation genome editing-based clinical classification of BRCA2 variants DOI
Sounak Sahu, Mélissa Galloux,

Eileen Southon

и другие.

Nature, Год журнала: 2025, Номер unknown

Опубликована: Янв. 8, 2025

Язык: Английский

Процитировано

3

Decoding the functional impact of the cancer genome through protein–protein interactions DOI
Haian Fu, Xiulei Mo, Andrei A. Ivanov

и другие.

Nature reviews. Cancer, Год журнала: 2025, Номер unknown

Опубликована: Янв. 14, 2025

Язык: Английский

Процитировано

3

Unlocking precision medicine: clinical applications of integrating health records, genetics, and immunology through artificial intelligence DOI Creative Commons
Yiming Chen, Tzu‐Hung Hsiao, Ching‐Heng Lin

и другие.

Journal of Biomedical Science, Год журнала: 2025, Номер 32(1)

Опубликована: Фев. 7, 2025

Abstract Artificial intelligence (AI) has emerged as a transformative force in precision medicine, revolutionizing the integration and analysis of health records, genetics, immunology data. This comprehensive review explores clinical applications AI-driven analytics unlocking personalized insights for patients with autoimmune rheumatic diseases. Through synergistic approach integrating AI across diverse data sets, clinicians gain holistic view patient potential risks. Machine learning models excel at identifying high-risk patients, predicting disease activity, optimizing therapeutic strategies based on clinical, genomic, immunological profiles. Deep techniques have significantly advanced variant calling, pathogenicity prediction, splicing analysis, MHC-peptide binding predictions genetics. AI-enabled including dimensionality reduction, cell population identification, sample classification, provides unprecedented into complex immune responses. The highlights real-world examples medicine platforms decision support tools rheumatology. Evaluation outcomes demonstrates benefits impact these approaches care. However, challenges such quality, privacy, clinician trust must be navigated successful implementation. future lies continued research, development, to unlock care drive innovation

Язык: Английский

Процитировано

3