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 …

Genomic healthcare programmes, both in a research and clinical context, have
demonstrated a pivotal opportunity to prevent, diagnose, and treat rare diseases. However …

The potential to grow genomic knowledge and harness the subsequent clinical benefits has
escalated the building of background variant databases (BVDs) for genetic diagnosis across …

The expanding use of genomic technologies encompasses all phases of life, from the
embryo to the elderly, and even the posthumous phase. In this paper, we present the …

The establishment of genomics in health care systems has been occurring for the past
decade. It is recognised that implementing genomics within a health service is challenging …

Precision medicine is a tailored approach to health, incorporating an individual's genetic
make-up, environment and lifestyle, and is a new frontier offering much promise for disease …

Molecular diagnosis of paediatric inborn errors of immunity (IEI) influences management
decisions and alters clinical outcomes, through early use of targeted and curative therapies …

Clinical genomics is a system of multiple stakeholders and institutions. Yet, studies focusing
on the comparative perspectives of these stakeholders are limited. This study engages four …

Approaches to reporting clinically important genetic findings unrelated to the initial test
request vary internationally. We sought to investigate practices regarding the management …

Background Personalized medicine (PM) is now the new frontier in patient care. The
application of this new paradigm extends to various pathologies and different patient care …