AIMC Topic: Sequence Analysis, DNA

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A Machine learning model for predicting sepsis based on an optimized assay for microbial cell-free DNA sequencing.

Clinica chimica acta; international journal of clinical chemistry
OBJECTIVE: To integrate an enhanced molecular diagnostic technique to develop and validate a machine-learning model for diagnosing sepsis.

A signal processing and deep learning framework for methylation detection using Oxford Nanopore sequencing.

Nature communications
Oxford Nanopore sequencing can detect DNA methylations from ionic current signal of single molecules, offering a unique advantage over conventional methods. Additionally, adaptive sampling, a software-controlled enrichment method for targeted sequenc...

RUBICON: a framework for designing efficient deep learning-based genomic basecallers.

Genome biology
Nanopore sequencing generates noisy electrical signals that need to be converted into a standard string of DNA nucleotide bases using a computational step called basecalling. The performance of basecalling has critical implications for all later step...

MAC-ErrorReads: machine learning-assisted classifier for filtering erroneous NGS reads.

BMC bioinformatics
BACKGROUND: The rapid advancement of next-generation sequencing (NGS) machines in terms of speed and affordability has led to the generation of a massive amount of biological data at the expense of data quality as errors become more prevalent. This i...

Performance analysis of conventional and AI-based variant callers using short and long reads.

BMC bioinformatics
BACKGROUND: The accurate detection of variants is essential for genomics-based studies. Currently, there are various tools designed to detect genomic variants, however, it has always been a challenge to decide which tool to use, especially when vario...

Improving Enhancer Identification with a Multi-Classifier Stacked Ensemble Model.

Journal of molecular biology
Enhancers are DNA regions that are responsible for controlling the expression of genes. Enhancers are usually found upstream or downstream of a gene, or even inside a gene's intron region, but are normally located at a distant location from the genes...

Ultra-fast deep-learned CNS tumour classification during surgery.

Nature
Central nervous system tumours represent one of the most lethal cancer types, particularly among children. Primary treatment includes neurosurgical resection of the tumour, in which a delicate balance must be struck between maximizing the extent of r...

Predicting pathogenic protein variants.

Science (New York, N.Y.)
Machine-learning algorithm uses structure prediction to spot disease-causing mutations.

Pharmacovariome scanning using whole pharmacogene resequencing coupled with deep computational analysis and machine learning for clinical pharmacogenomics.

Human genomics
BACKGROUND: This pilot study aims to identify and functionally assess pharmacovariants in whole exome sequencing data. While detection of known variants has benefited from pharmacogenomic-dedicated bioinformatics tools before, in this paper we have t...

ResMiCo: Increasing the quality of metagenome-assembled genomes with deep learning.

PLoS computational biology
The number of published metagenome assemblies is rapidly growing due to advances in sequencing technologies. However, sequencing errors, variable coverage, repetitive genomic regions, and other factors can produce misassemblies, which are challenging...