AIMC Topic: Models, Genetic

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Using machine learning and big data to explore the drug resistance landscape in HIV.

PLoS computational biology
Drug resistance mutations (DRMs) appear in HIV under treatment pressure. DRMs are commonly transmitted to naive patients. The standard approach to reveal new DRMs is to test for significant frequency differences of mutations between treated and naive...

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...

Prioritizing and characterizing functionally relevant genes across human tissues.

PLoS computational biology
Knowledge of genes that are critical to a tissue's function remains difficult to ascertain and presents a major bottleneck toward a mechanistic understanding of genotype-phenotype links. Here, we present the first machine learning model-FUGUE-combini...

Genetic architecture of 11 organ traits derived from abdominal MRI using deep learning.

eLife
Cardiometabolic diseases are an increasing global health burden. While socioeconomic, environmental, behavioural, and genetic risk factors have been identified, a better understanding of the underlying mechanisms is required to develop more effective...

Finding gene network topologies for given biological function with recurrent neural network.

Nature communications
Searching for possible biochemical networks that perform a certain function is a challenge in systems biology. For simple functions and small networks, this can be achieved through an exhaustive search of the network topology space. However, it is di...

Feasibility of predicting allele specific expression from DNA sequencing using machine learning.

Scientific reports
Allele specific expression (ASE) concerns divergent expression quantity of alternative alleles and is measured by RNA sequencing. Multiple studies show that ASE plays a role in hereditary diseases by modulating penetrance or phenotype severity. Howev...

Neural network aided approximation and parameter inference of non-Markovian models of gene expression.

Nature communications
Non-Markovian models of stochastic biochemical kinetics often incorporate explicit time delays to effectively model large numbers of intermediate biochemical processes. Analysis and simulation of these models, as well as the inference of their parame...

The Translational Machine: A novel machine-learning approach to illuminate complex genetic architectures.

Genetic epidemiology
The Translational Machine (TM) is a machine learning (ML)-based analytic pipeline that translates genotypic/variant call data into biologically contextualized features that richly characterize complex variant architectures and permit greater interpre...