AIMC Topic: Mutation

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Machine learning enables pan-cancer identification of mutational hotspots at persistent CTCF binding sites.

Nucleic acids research
CCCTC-binding factor (CTCF) is an insulator protein that binds to a highly conserved DNA motif and facilitates regulation of three-dimensional (3D) nuclear architecture and transcription. CTCF binding sites (CTCF-BSs) reside in non-coding DNA and are...

Predicting tumor mutation burden and VHL mutation from renal cancer pathology slides with self-supervised deep learning.

Cancer medicine
BACKGROUND: Tumor mutation burden (TMB) and VHL mutation play a crucial role in the management of patients with clear cell renal cell carcinoma (ccRCC), such as guiding adjuvant chemotherapy and improving clinical outcomes. However, the time-consumin...

Protein multi-level structure feature-integrated deep learning method for mutational effect prediction.

Biotechnology journal
Through iterative rounds of mutation and selection, proteins can be engineered to enhance their desired biological functions. Nevertheless, identifying optimal mutation sites for directed evolution remains challenging due to the vastness of the prote...

DDMut-PPI: predicting effects of mutations on protein-protein interactions using graph-based deep learning.

Nucleic acids research
Protein-protein interactions (PPIs) play a vital role in cellular functions and are essential for therapeutic development and understanding diseases. However, current predictive tools often struggle to balance efficiency and precision in predicting t...

Generative AI in glioma: Ensuring diversity in training image phenotypes to improve diagnostic performance for IDH mutation prediction.

Neuro-oncology
BACKGROUND: This study evaluated whether generative artificial intelligence (AI)-based augmentation (GAA) can provide diverse and realistic imaging phenotypes and improve deep learning-based classification of isocitrate dehydrogenase (IDH) type in gl...

Unravelling the metabolic landscape of cutaneous melanoma: Insights from single-cell sequencing analysis and machine learning for prognostic assessment of lactate metabolism.

Experimental dermatology
This manuscript presents a comprehensive investigation into the role of lactate metabolism-related genes as potential prognostic markers in skin cutaneous melanoma (SKCM). Bulk-transcriptome data from The Cancer Genome Atlas (TCGA) and GSE19234, GSE2...

AttABseq: an attention-based deep learning prediction method for antigen-antibody binding affinity changes based on protein sequences.

Briefings in bioinformatics
The optimization of therapeutic antibodies through traditional techniques, such as candidate screening via hybridoma or phage display, is resource-intensive and time-consuming. In recent years, computational and artificial intelligence-based methods ...

Mutation prediction in the SARS-CoV-2 genome using attention-based neural machine translation.

Mathematical biosciences and engineering : MBE
Severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) has been evolving rapidly after causing havoc worldwide in 2020. Since then, it has been very hard to contain the virus owing to its frequently mutating nature. Changes in its genome lead t...

Predicting gastric cancer tumor mutational burden from histopathological images using multimodal deep learning.

Briefings in functional genomics
Tumor mutational burden (TMB) is a significant predictive biomarker for selecting patients that may benefit from immune checkpoint inhibitor therapy. Whole exome sequencing is a common method for measuring TMB; however, its clinical application is li...

D3EGFR: a webserver for deep learning-guided drug sensitivity prediction and drug response information retrieval for EGFR mutation-driven lung cancer.

Briefings in bioinformatics
As key oncogenic drivers in non-small-cell lung cancer (NSCLC), various mutations in the epidermal growth factor receptor (EGFR) with variable drug sensitivities have been a major obstacle for precision medicine. To achieve clinical-level drug recomm...