A comprehensive review of deep learning-based variant calling methods

R Junjun, Z Zhengqian, W Ying… - Briefings in …, 2024 - academic.oup.com
Genome sequencing data have become increasingly important in the field of personalized
medicine and diagnosis. However, accurately detecting genomic variations remains a …

Next-generation fungal identification using target enrichment and Nanopore sequencing

PL Yu, JC Fulton, OH Hudson, JC Huguet-Tapia… - BMC genomics, 2023 - Springer
Background Rapid and accurate pathogen identification is required for disease
management. Compared to sequencing entire genomes, targeted sequencing may be used …

PHARE: a bioinformatics pipeline for compositional profiling of multiclonal Plasmodium falciparum infections from long-read Nanopore sequencing data

S Hosch, P Wagner, JN Giger, N Dubach… - Journal of …, 2024 - academic.oup.com
Background The emergence of drug-resistant clones of Plasmodium falciparum is a major
public health concern, and the ability to detect and track the spread of these clones is crucial …

mtDNA analysis using Mitopore

J Dobner, T Nguyen, MG Pavez-Giani… - … Therapy Methods & …, 2024 - cell.com
Mitochondrial DNA (mtDNA) analysis is crucial for the diagnosis of mitochondrial disorders,
forensic investigations, and basic research. Existing pipelines are complex, expensive, and …

NAVIP: Unraveling the Influence of Neighboring Small Sequence Variants on Functional Impact Prediction

JS Baasner, A Rempel, D Howard, B Pucker - BioRxiv, 2019 - biorxiv.org
Once a suitable reference sequence has been generated, intraspecific variation is often
assessed by re-sequencing. Variant calling processes can reveal all differences between …

Nanopore From Single-Channel Biophysics to Direct RNA Sequencing

X Kang - 2024 - search.proquest.com
Over the past two decades, nanopore technology has emerged as a pivotal tool in the single-
molecule analysis of biomolecules, offering a cost-effective, rapid, and high-throughput …

The Role of p107 in Myogenic Stem Cell DNA Methylation

KR Fine - 2024 - yorkspace.library.yorku.ca
Myogenic stem cells have the potential to either self-renew or differentiate into muscle fibers.
These stem cell fate choices are influenced by metabolic changes which affect the …