AIMC Topic: Point Mutation

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DeepGene: an advanced cancer type classifier based on deep learning and somatic point mutations.

BMC bioinformatics
BACKGROUND: With the developments of DNA sequencing technology, large amounts of sequencing data have become available in recent years and provide unprecedented opportunities for advanced association studies between somatic point mutations and cancer...

ActiMut-XGB: Predicting thermodynamic stability of point mutations for CALB with protein language model.

International journal of biological macromolecules
Predicting the functional impact of single-point mutations on protein residual activity, especially after high-temperature incubation, is critical in protein engineering. We present an innovative machine learning model based on eXtreme Gradient Boost...

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...

PROSTATA: a framework for protein stability assessment using transformers.

Bioinformatics (Oxford, England)
MOTIVATION: Accurate prediction of change in protein stability due to point mutations is an attractive goal that remains unachieved. Despite the high interest in this area, little consideration has been given to the transformer architecture, which is...

DDMut: predicting effects of mutations on protein stability using deep learning.

Nucleic acids research
Understanding the effects of mutations on protein stability is crucial for variant interpretation and prioritisation, protein engineering, and biotechnology. Despite significant efforts, community assessments of predictive tools have highlighted ongo...

FireProtDB: database of manually curated protein stability data.

Nucleic acids research
The majority of naturally occurring proteins have evolved to function under mild conditions inside the living organisms. One of the critical obstacles for the use of proteins in biotechnological applications is their insufficient stability at elevate...

Ensemble-Based Somatic Mutation Calling in Cancer Genomes.

Methods in molecular biology (Clifton, N.J.)
Identification of somatic mutations in tumor tissue is challenged by both technical artifacts, diverse somatic mutational processes, and genetic heterogeneity in the tumors. Indeed, recent independent benchmark studies have revealed low concordance b...