Whole genome sequencing has rapidly progressed in recent years, with sequencing the SARS-CoV-2 genomes, making it a more reliable clinical tool for public health surveillance. This development has resulted in the production of a large amount of genomic data used for various types of genomic exploration. However, without a proper standard protocol, the usage of genomic data for analyzing various biological phenomena, such as mutation and evolution, may result in a propagating risk of using an unvalidated data set. This process could lead to irregular data being generated along with a high risk of altered analysis. Thus, the current study lays out the foundation for a preprocess pipeline using data analysis to analyze the genomic data set for its accuracy. We have used the recent example of SARS-CoV-2 to demonstrate the process overflow that can be utilized for various kinds of biological exploration such as understanding mutational events, evolutionary divergence, and speciation. Our analysis reveals a significant amount of sequence divergence in the gamma variant as compared with the reference genome thereby making the variant less infective and deadly. Moreover, we found regions in the genomic sequence that is more prone to mutational localization thereby altering the structural integrity of the virus resulting in a more reliable molecular viral mechanism. We believe that the current work will help for an initial check of the genomic data followed by the biological assessment of the process overflow which will be beneficial for the variant analysis and mutational uprising.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9500253PMC
http://dx.doi.org/10.1177/11779322221126294DOI Listing

Publication Analysis

Top Keywords

genomic data
16
data analysis
8
genomic sequence
8
sequence divergence
8
mutational localization
8
data set
8
process overflow
8
genomic
7
data
7
analysis
5

Similar Publications

A new gene coding for an iron-containing enzyme was identified in the genome of Acinetobacter radioresistens. Bioinformatics analysis allowed the assignment of the protein to DyP peroxidases, due to the presence of conserved residues involved in heme binding and catalysis. Moreover, Ar-DyP is located in an operon coding also for other enzymes involved in iron uptake and regulation.

View Article and Find Full Text PDF

Outbreak of carbapenem resistant Klebsiella pneumoniae in a neurorehabilitation unit: genomic epidemiology reveals complex transmission pattern in a tertiary care hospital.

J Glob Antimicrob Resist

January 2025

Microbiology Unit, Clinical Pathology Department, Piacenza General Hospital, Piacenza, Italy; Medicine and Surgery Department, University of Parma, Parma, Italy.

Objectives: Infections by Carbapenem-Resistant Enterobacterales in hospitals represent a severe threat but little is known on outbreaks in rehabilitation wards caused by Klebsiella pneumoniae producing Klebsiella pneumoniae Carbapenemase (KPC-Kp). We report an outbreak by KPC-Kp, in a Neurorehabilitation Unit in Italy, analysed through Whole-Genome Sequencing (WGS) for transmission routes reconstruction to improve management of KPC-Kp infections in rehabilitation units.

Methods: We investigated cases and KPC-Kp isolates collected from February to October 2022 from hospital surveillance.

View Article and Find Full Text PDF

Chapter 5: THE ROLE OF GENETICS IN PRIMARY HYPERPARATHYROIDISM.

Ann Endocrinol (Paris)

January 2025

Univ. Lille, Inserm, CHU Lille, U1286 - Infinite, F-59045 Lille Cedex, Department of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France. Electronic address:

Around 10% of cases of primary hyperparathyroidism are thought to be genetic in origin, some of which are part of a syndromic form such as multiple endocrine neoplasia types 1, 2A or 4 or hyperparathyroidism-jaw tumor syndrome, while the remainder are cases of isolated familial primary hyperparathyroidism. Recognition of these genetic forms is important to ensure appropriate management according to the gene and type of variant involved, but screening for a genetic cause is not justified in all patients presenting primary hyperparathyroidism. The indications for genetic analysis have made it possible to propose a decision tree that takes into account whether the presentation is familial or sporadic, syndromic or isolated, patient age, and histopathological type of parathyroid lesion.

View Article and Find Full Text PDF

Finerenone and new-onset diabetes in heart failure: a prespecified analysis of the FINEARTS-HF trial.

Lancet Diabetes Endocrinol

January 2025

British Heart Foundation Cardiovascular Research Centre, University of Glasgow, Glasgow, UK. Electronic address:

Background: Data on the effect of mineralocorticoid receptor antagonist therapy on HbA levels and new-onset diabetes are conflicting. We aimed to examine the effect of oral finerenone, compared with placebo, on incident diabetes in the Finerenone Trial to Investigate Efficacy and Safety Superior to Placebo in Patients with Heart Failure (FINEARTS-HF) trial.

Methods: In this randomised, double-blind, placebo-controlled trial, 6001 participants with heart failure with New York Heart Association functional class II-IV, left ventricular ejection fraction 40% or higher, evidence of structural heart disease, and elevated N-terminal pro-B-type natriuretic peptide levels were randomly assigned to finerenone or placebo, administered orally.

View Article and Find Full Text PDF

Construction of a stromal-related prognostic model in acute myeloid leukemia by comprehensive bioinformatics analysis.

Curr Res Transl Med

January 2025

Department of Hematology and Blood Banking, School of Allied Medical Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Hematology-Oncology and Stem Cell Transplantation Research Center, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:

Background: Stromal cells play a pivotal role in the tumor microenvironment (TME), significantly impacting the progression of acute myeloid leukemia (AML). This study sought to develop a stromal-related prognostic model for AML, aiming to uncover novel prognostic markers and therapeutic targets.

Methods: RNA expression data and clinical profiles of AML patients were retrieved from the Cancer Genome Atlas (TCGA).

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!