Boquila: NGS read simulator to eliminate read nucleotide bias in sequence analysis.

Turk J Biol

Faculty of Engineering and Natural Sciences, Sabancı University, İstanbul, Turkey.

Published: February 2023

Sequence content is heterogeneous throughout genomes. Therefore, genome-wide next-generation sequencing (NGS) reads biased towards specific nucleotide profiles are affected by the genome-wide heterogeneous nucleotide distribution. Boquila generates sequences that mimic the nucleotide profile of true reads, which can be used to correct the nucleotide-based bias of genome-wide distribution of NGS reads. Boquila can be configured to generate reads from only specified regions of the reference genome. It also allows the use of input DNA sequencing to correct the bias due to the copy number variations in the genome. Boquila uses standard file formats for input and output data, and it can be easily integrated into any workflow for high-throughput sequencing applications.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387831PMC
http://dx.doi.org/10.55730/1300-0152.2650DOI Listing

Publication Analysis

Top Keywords

ngs reads
8
boquila
4
boquila ngs
4
ngs read
4
read simulator
4
simulator eliminate
4
eliminate read
4
nucleotide
4
read nucleotide
4
nucleotide bias
4

Similar Publications

Influence of selected dosages of plastic microparticles on the porcine fecal microbiome.

Sci Rep

January 2025

Department of Clinical Physiology, Faculty of Veterinary Medicine, University of Warmia and Mazury in Olsztyn, Oczapowskiego 13, 10-719, Olsztyn, Poland.

Studies conducted so far have shown that nano- and microplastic may disturb the intestinal microenvironment by interacting with the intestinal epithelium and the gut microbiota. Depending on the research model used, the effect on the microbiome is different-an increase or decrease in selected taxa resulting in the development of dysbiosis. Dysbiosis may be associated with intestinal inflammation, development of mental disorders or diabetes.

View Article and Find Full Text PDF

MET Exon 14 Skipping and Novel Actionable Variants: Diagnostic and Therapeutic Implications in Latin American Non-Small-Cell Lung Cancer Patients.

Int J Mol Sci

December 2024

Centro de Genética y Genómica, Instituto de Ciencias e Innovación en Medicina, Facultad de Medicina Clínica Alemana Universidad del Desarrollo, Santiago 7550000, Chile.

Targeted therapy indications for actionable variants in non-small-cell lung cancer (NSCLC) have primarily been studied in Caucasian populations, with limited data on Latin American patients. This study utilized a 52-genes next-generation sequencing (NGS) panel to analyze 1560 tumor biopsies from NSCLC patients in Chile, Brazil, and Peru. The RNA sequencing reads and DNA coverage were correlated to improve the detection of the actionable exon 14 skipping variant (METex14).

View Article and Find Full Text PDF

First report of subsp. infecting southern shagbark hickory () in Georgia, USA.

Plant Dis

January 2025

USDA Agricultural Research Service, 9611 S. Riverbend Ave, Parlier, District of Columbia, United States, 93648;

Southern shagbark hickory (Carya carolinae-septentrionalis) is one of several deciduous trees in the family Juglandaceae and genus Carya that are native to North America. Southern shagbark hickory has a restricted distribution to the Southeast U.S.

View Article and Find Full Text PDF

There have been frequent reports of more than one strain of the nitrogen-fixing symbiont, Frankia, in the same root nodule of plants in the genus Alnus, but quantitative assessments of their relative contributions have not been made to date. Neither has the diversity of other microbes, having potential functional roles in symbiosis, been systematically evaluated. Alnus rubra root nodule microbiota were studied using Illumina short read sequencing and kmer-based read classification.

View Article and Find Full Text PDF

Development of a sensitive disease-screening model using comprehensive circulating microRNA profiles in dogs: A pilot study.

Vet Anim Sci

March 2025

Department of Veterinary Clinical Pathobiology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, 1-1-1 Yayoi, Bunkyo-ku, Tokyo, 113-8657, Japan.

In the veterinary field, the utility of disease-identification models that use comprehensive circulating microRNA (miRNA) profiles produced through measurements based on next-generation sequencing (NGS) remains unproven. To integrate NGS technology with automated machine learning (autoML) to create a comprehensive circulating miRNA profile and to assess the clinical utility of a disease-screening model derived from this profile. The study involved dogs diagnosed with or being treated for various diseases, including tumors, across multiple veterinary clinics ( = 254), and healthy dogs without apparent diseases ( = 91).

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!