Publications by authors named "M I Nelen"
In this study, we compare next-generation sequencing (NGS) approaches (targeted panel (tNGS), whole exome sequencing (WES), and whole genome sequencing (WGS)) for application in newborn screening (NBS). DNA was extracted from dried blood spots (DBS) from 50 patients with genetically confirmed inherited metabolic disorders (IMDs) and 50 control samples. One hundred IMD-related genes were analyzed.
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- Genetic laboratories currently use diverse workflows to diagnose hereditary and congenital diseases, and this study assesses the potential of genome sequencing (GS) to streamline these processes.
- The researchers tested GS on 1,000 cases with known genetic variants to evaluate its effectiveness compared to existing methods, finding that GS detected 95% of variants across different categories.
- The results suggest that adopting a GS-first approach could replace multiple workflows in around 85% of clinical cases, allowing for more efficient and comprehensive diagnostics for rare genetic diseases.
Article Synopsis
- Rapid exome sequencing (rES) is becoming the go-to genetic test for critically ill patients, especially neonates and young infants, helping quickly identify genetic causes of rare diseases to guide treatment.
- A study evaluated rES on 575 patients over four years, revealing a significant increase in referrals and a decrease in turnaround time for results, with an overall diagnostic yield of 30.4%.
- Even when no genetic diagnosis was found, rES still influenced clinical decision-making, highlighting its value for patients of all ages and various rare conditions.
Background: Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques.
View Article and Find Full Text PDFRapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Eur J Pediatr
June 2023
Article Synopsis
- Rapid exome sequencing (rES) was compared with routine genetic testing in a study involving 60 critically ill neonates to determine its impact on diagnosis and healthcare costs.
- rES achieved a higher diagnostic yield (20% vs. 10%) and provided results significantly faster (15 days vs. 59 days) than traditional methods.
- The study concluded that rES is clinically beneficial, offering improved diagnosis and reduced costs, suggesting it should be the standard first-tier genetic test for critically ill neonates.