WES

How to Implement Newborn Genomic Screening: Challenges and Clinical Reality

Contents This document outlines key operational challenges encountered in large-scale genomic screening programs, with a focus on real-world implementation constraints.    1. Introduction: Beyond Sequencing In large-scale genomic screening programs, sequencing is often perceived as the central technical challenge. In practice, however, the most critical phase occurs before sequencing even begins. The successful implementation of

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WES in NICU (Neonatal Intensive Care Unit)

Newborns in NICU Critically ill newborns are usually admitted to the Neonatal Intensive Care Unit (NICU) departments. Because a critically ill newborn is often affected by a genetic disorder, trials have been made to measure the effectiveness and usefulness of rapid (or ultra-rapid) genetic testing in this special set of patients. Certain studies have also

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WES in FUO

What is FUO? FUO is acronym for Fever of Unknown Origin. FUO has been first defined by Petersdorf and Beeson in 1961 as a fever lasting more than 3 weeks, with a temperature over 38.3 °C on several occasions. FUO still represents a challlenge for Diagnostics in several clinical cases. Apart from infective, autoimmune and

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