Over the past 25 years, the powerful combination of genome sequencing and bioinformatics
analysis has played a crucial role in interpreting information encoded in bacterial genomes …

Recent developments have revolutionized the study of biomolecules. Among them are
molecular markers, amplification and sequencing of nucleic acids. The latter is classified into …

Nanopore sequencing (ONT) is a new and rapidly develo** method for determining
nucleotide sequences in DNA and RNA. It serves the ability to obtain long reads of …

Background The etiology of central nervous system (CNS) tumors in children is largely
unknown and population-based studies of genetic predisposition are lacking. Methods In …

Introduction: Copy number variations (CNVs) play a critical role in the pathogenesis of
neurodevelopmental disorders (NDD) among children. In this study, we aim to identify …

Genomic rearrangements cause congenital disorders, cancer, and complex diseases in
human. Yet, they are still understudied in rare diseases because their detection is …

The integration of HBV DNA into the human genome can disrupt its structure in
hepatocellular carcinoma (HCC), but the complexity of HBV genomic integration remains …

Cerebral palsy (CP) has historically been attributed to acquired insults, but emerging
research suggests that genetic variations are also important causes of CP. While microarray …

Advances in long-read sequencing (LRS) technologies continue to make whole-genome
sequencing more complete, affordable, and accurate. LRS provides significant advantages …

Background Mitochondria are the cell organelles that produce most of the chemical energy
required to power the cell's biochemical reactions. Despite being a part of a eukaryotic host …