Purpose This meta-analysis aims to compare the diagnostic and clinical utility of exome
sequencing (ES) vs genome sequencing (GS) in pediatric and adult patients with rare …

The integration of whole genome sequencing (WGS) into all aspects of modern medicine
represents the next step in the evolution of healthcare. Using this technology, scientists and …

Third-generation sequencing can be used in human cancer genomics and epigenomic
research. Oxford Nanopore Technologies (ONT) recently released R10. 4 flow cell, which …

Primary mitochondrial disease describes a diverse group of neuro-metabolic disorders
characterised by impaired oxidative phosphorylation. Diagnosis is challenging;> 350 genes …

Molecular diagnostics is a cornerstone of modern precision medicine, broadly understood
as tailoring an individual's treatment, follow‐up, and care based on molecular data. In rare …

Medical laboratory services enable precise measurement of thousands of biomolecules and
have become an inseparable part of high-quality healthcare services, exerting a profound …

Background The diagnosis of rare genetic diseases is often challenging due to the
complexity of the genetic underpinnings of these conditions and the limited availability of …

Objectives First, to determine the incremental yield of whole‐genome sequencing (WGS)
over quantitative fluorescence polymerase chain reaction (QF‐PCR)/chromosomal …

High-throughput sequencing technologies have increasingly led to discovery of disease-
causing genetic variants, primarily in postnatal multi-cell DNA samples. However, applying …

DMD gene pathogenic variations cause a spectrum of phenotypes, ranging from severe
Duchenne muscular dystrophy, the Becker milder cases, the intermediate or very mild …