AIMC Topic: Point Mutation

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Assessing the reliability of point mutation as data augmentation for deep learning with genomic data.

BMC bioinformatics
BACKGROUND: Deep neural networks (DNNs) have the potential to revolutionize our understanding and treatment of genetic diseases. An inherent limitation of deep neural networks, however, is their high demand for data during training. To overcome this ...

PMSPcnn: Predicting protein stability changes upon single point mutations with convolutional neural network.

Structure (London, England : 1993)
Protein missense mutations and resulting protein stability changes are important causes for many human genetic diseases. However, the accurate prediction of stability changes due to mutations remains a challenging problem. To address this problem, we...

Coot-Lion optimized deep learning algorithm for COVID-19 point mutation rate prediction using genome sequences.

Computer methods in biomechanics and biomedical engineering
In this study, a deep quantum neural network (DQNN) based on the Lion-based Coot algorithm (LBCA-based Deep QNN) is employed to predict COVID-19. Here, the genome sequences are subjected to feature extraction. The fusion of features is performed usin...

Predicting changes in protein thermodynamic stability upon point mutation with deep 3D convolutional neural networks.

PLoS computational biology
Predicting mutation-induced changes in protein thermodynamic stability (ΔΔG) is of great interest in protein engineering, variant interpretation, and protein biophysics. We introduce ThermoNet, a deep, 3D-convolutional neural network (3D-CNN) designe...

Computational inference of cancer-specific vulnerabilities in clinical samples.

Genome biology
BACKGROUND: Systematic in vitro loss-of-function screens provide valuable resources that can facilitate the discovery of drugs targeting cancer vulnerabilities.

Determinants of Base Editing Outcomes from Target Library Analysis and Machine Learning.

Cell
Although base editors are widely used to install targeted point mutations, the factors that determine base editing outcomes are not well understood. We characterized sequence-activity relationships of 11 cytosine and adenine base editors (CBEs and AB...

Decoding whole-genome mutational signatures in 37 human pan-cancers by denoising sparse autoencoder neural network.

Oncogene
Millions of somatic mutations have recently been discovered in cancer genomes. These mutations in cancer genomes occur due to internal and external mutagenesis forces. Decoding the mutational processes by examining their unique patterns has successfu...

Machine Learning Techniques for Classifying the Mutagenic Origins of Point Mutations.

Genetics
There is increasing interest in developing diagnostics that discriminate individual mutagenic mechanisms in a range of applications that include identifying population-specific mutagenesis and resolving distinct mutation signatures in cancer samples....

Robust Prediction of Single and Multiple Point Protein Mutations Stability Changes.

Biomolecules
Accurate prediction of protein stability changes resulting from amino acid substitutions is of utmost importance in medicine to better understand which mutations are deleterious, leading to diseases, and which are neutral. Since conducting wet lab ex...

Seq2seq Fingerprint with Byte-Pair Encoding for Predicting Changes in Protein Stability upon Single Point Mutation.

IEEE/ACM transactions on computational biology and bioinformatics
The engineering of stable proteins is crucial for various industrial purposes. Several machine learning methods have been developed to predict changes in the stability of proteins corresponding to single point mutations. To improve the prediction acc...