AI Medical Compendium Journal:
PLoS genetics

Showing 1 to 9 of 9 articles

Mouse-Geneformer: A deep learning model for mouse single-cell transcriptome and its cross-species utility.

PLoS genetics
Deep learning techniques are increasingly utilized to analyze large-scale single-cell RNA sequencing (scRNA-seq) data, offering valuable insights from complex transcriptome datasets. Geneformer, a pre-trained model using a Transformer Encoder archite...

A machine learning enhanced EMS mutagenesis probability map for efficient identification of causal mutations in Caenorhabditis elegans.

PLoS genetics
Chemical mutagenesis-driven forward genetic screens are pivotal in unveiling gene functions, yet identifying causal mutations behind phenotypes remains laborious, hindering their high-throughput application. Here, we reveal a non-uniform mutation rat...

Comparison of clinical geneticist and computer visual attention in assessing genetic conditions.

PLoS genetics
Artificial intelligence (AI) for facial diagnostics is increasingly used in the genetics clinic to evaluate patients with potential genetic conditions. Current approaches focus on one type of AI called Deep Learning (DL). While DL- based facial diagn...

Domain-adaptive neural networks improve supervised machine learning based on simulated population genetic data.

PLoS genetics
Investigators have recently introduced powerful methods for population genetic inference that rely on supervised machine learning from simulated data. Despite their performance advantages, these methods can fail when the simulated training data does ...

Classification of non-coding variants with high pathogenic impact.

PLoS genetics
Whole genome sequencing is increasingly used to diagnose medical conditions of genetic origin. While both coding and non-coding DNA variants contribute to a wide range of diseases, most patients who receive a WGS-based diagnosis today harbour a prote...

Creating artificial human genomes using generative neural networks.

PLoS genetics
Generative models have shown breakthroughs in a wide spectrum of domains due to recent advancements in machine learning algorithms and increased computational power. Despite these impressive achievements, the ability of generative models to create re...

Machine learning identifies signatures of host adaptation in the bacterial pathogen Salmonella enterica.

PLoS genetics
Emerging pathogens are a major threat to public health, however understanding how pathogens adapt to new niches remains a challenge. New methods are urgently required to provide functional insights into pathogens from the massive genomic data sets no...

Supervised machine learning reveals introgressed loci in the genomes of Drosophila simulans and D. sechellia.

PLoS genetics
Hybridization and gene flow between species appears to be common. Even though it is clear that hybridization is widespread across all surveyed taxonomic groups, the magnitude and consequences of introgression are still largely unknown. Thus it is cru...

S/HIC: Robust Identification of Soft and Hard Sweeps Using Machine Learning.

PLoS genetics
Detecting the targets of adaptive natural selection from whole genome sequencing data is a central problem for population genetics. However, to date most methods have shown sub-optimal performance under realistic demographic scenarios. Moreover, over...