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Mutation

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Rosetta:MSF:NN: Boosting performance of multi-state computational protein design with a neural network.

PloS one
Rational protein design aims at the targeted modification of existing proteins. To reach this goal, software suites like Rosetta propose sequences to introduce the desired properties. Challenging design problems necessitate the representation of a pr...

Diagnosis of Wilson Disease and Its Phenotypes by Using Artificial Intelligence.

Biomolecules
WD is caused by variants disrupting copper efflux resulting in excessive copper accumulation mainly in liver and brain. The diagnosis of WD is challenged by its variable clinical course, onset, morbidity, and variant type. Currently it is diagnosed...

Informed training set design enables efficient machine learning-assisted directed protein evolution.

Cell systems
Directed evolution of proteins often involves a greedy optimization in which the mutation in the highest-fitness variant identified in each round of single-site mutagenesis is fixed. The efficiency of such a single-step greedy walk depends on the ord...

Comparative analysis of machine learning approaches to classify tumor mutation burden in lung adenocarcinoma using histopathology images.

Scientific reports
Both histologic subtypes and tumor mutation burden (TMB) represent important biomarkers in lung cancer, with implications for patient prognosis and treatment decisions. Typically, TMB is evaluated by comprehensive genomic profiling but this requires ...

Predicting mutant outcome by combining deep mutational scanning and machine learning.

Proteins
Deep mutational scanning provides unprecedented wealth of quantitative data regarding the functional outcome of mutations in proteins. A single experiment may measure properties (eg, structural stability) of numerous protein variants. Leveraging the ...

In silico saturation mutagenesis of cancer genes.

Nature
Despite the existence of good catalogues of cancer genes, identifying the specific mutations of those genes that drive tumorigenesis across tumour types is still a largely unsolved problem. As a result, most mutations identified in cancer genes acros...

Gene Mutation Classification through Text Evidence Facilitating Cancer Tumour Detection.

Journal of healthcare engineering
A cancer tumour consists of thousands of genetic mutations. Even after advancement in technology, the task of distinguishing genetic mutations, which act as driver for the growth of tumour with passengers (Neutral Genetic Mutations), is still being d...

The impact of site-specific digital histology signatures on deep learning model accuracy and bias.

Nature communications
The Cancer Genome Atlas (TCGA) is one of the largest biorepositories of digital histology. Deep learning (DL) models have been trained on TCGA to predict numerous features directly from histology, including survival, gene expression patterns, and dri...

Predicting HIV drug resistance using weighted machine learning method at target protein sequence-level.

Molecular diversity
Acquired immune deficiency syndrome (AIDS) is a fatal disease caused by human immunodeficiency virus (HIV). Although 23 different drugs have been available, the treatment of AIDS remains challenging because the virus mutates very quickly which can le...

Gene Position Index Mutation Detection Algorithm Based on Feedback Fast Learning Neural Network.

Computational intelligence and neuroscience
In the detection of genome variation, the research on the internal correlation of reference genome is deepening; the detection of variation in genome sequence has become the focus of research, and it has also become an effective path to find new gene...