Quality Assurance for Next-Generation Sequencing Diagnostics of Rare Neurological Diseases in the European Reference Network

Medicine, Medical Laboratory Science, Neurology, Life Sciences, Genetics,
Next-Generation Sequencing   Rare Neurological Diseases   Quality Control   European Reference Network   Genetic Diagnostics  

Application of Quality Assurance in Future Advanced Sequencing Diagnostics Background Over the past decade, Next-Generation Sequencing (NGS) has made revolutionary progress in the diagnosis of Rare Neurological Diseases (RNDs). However, the lack of technical, interpretative, and reporting standards has posed challenges in ensuring consistent and hi...

Limitations in Next-Generation Sequencing-Based Genotyping of Breast Cancer Polygenic Risk Score Loci

Medicine, Medical Laboratory Science, Oncology, Life Sciences, Biochemistry, Genetics,
Next-Generation Sequencing   Breast Cancer   Polygenic Risk Score   Genotyping   Variant Allele Frequencies   Genetic Counseling   Bioinformatics  

Limitations of Next-Generation Sequencing-Based Genotyping for Breast Cancer Polygenic Risk Score Loci Background Introduction In the prediction of hereditary Breast Cancer (BC), Polygenic Risk Scores (PRSs) are increasingly being used as an important tool for individual risk prediction. The calculation of PRS relies on accurately reproducing varia...

Using Computational Approaches to Enhance the Interpretation of Missense Variants in the PAX6 Gene

Medicine, Ophthalmology, Life Sciences, Genetics,
PAX6 gene   missense variants   computational approaches   eye development   loss-of-function   clinical settings  

Improving the Interpretation of PAX6 Gene Missense Variants Through Computational Methods Background The PAX6 gene is a highly conserved transcription factor that plays a crucial role in eye development. Heterozygous loss-of-function variants in PAX6 can lead to a range of ophthalmic disorders, including aniridia. However, many PAX6 gene missense v...

Dutch Pharmacogenetics Working Group (DPWG) Guideline for the Gene-Drug Interaction of CYP2C9, HLA-A, and HLA-B with Anti-epileptic Drugs

Medicine, Basic Medical Sciences, Neurology, Pharmacy, Life Sciences, Genetics,
pharmacogenetics   anti-epileptic drugs   CYP2C9   HLA-A   HLA-B   drug interactions   personalized medicine  

Dutch Pharmacogenetics Working Group Guideline for CYP2C9, HLA-A and HLA-B Gene-Drug Interactions with Antiepileptic Drugs Background Pharmacogenetics (PGx) studies how genetic variations affect individual drug responses, aiming to guide drug selection and dosing, optimize drug therapy, prevent adverse drug reactions, and achieve safer and more cos...

POT1 Tumour Predisposition: A Broader Spectrum of Associated Malignancies and Proposal for Additional Screening Program

Medicine, Oncology, Life Sciences, Genetics,
POT1   tumour predisposition   gene variants   screening program   familial cancer   malignancy   chromosome  

POT1 Tumor Susceptibility Research: A Broader Spectrum of Related Malignancies and Recommendations for Additional Screening Plans Research Background POT1 (Protection of Telomeres Protein 1) is an important component of the Shelterin telomere-binding complex, responsible for regulating telomere length. Some pathogenic variants (PVs) of the POT1 gen...

Defining the Variant-Phenotype Correlation in Patients Affected by Noonan Syndrome with the RAF1:c.770C>T p.(Ser257Leu) Variant

Medicine, Pediatrics, Neurology, Cardiovascular System, Life Sciences, Genetics,
RAF1 gene   Noonan Syndrome   Hypertrophic cardiomyopathy   Phenotype correlation   Neonatal   Early intervention   Mortality rate  

Phenotypic Correlation Study of RAF1:c.770C>T p.(Ser257Leu) Variant in Noonan Syndrome Patients Academic Background Noonan syndrome (NS) is one of the most common RASopathies, primarily caused by the upregulation of RAS protein and mitogen-activated protein kinase (MAPK) signaling pathways. These disorders are characterized by facial dysmorphism, c...

Genome Sequencing Enables Diagnosis and Treatment of SLC5A6 Neuropathy

Medicine, Neurology, Life Sciences, Genetics,
Genome Sequencing   SLC5A6   Neuropathy   Biotin   Metabolic Disorders   Treatment   Health Economics  

Diagnosis and Treatment of SLC5A6-Related Neuropathy: Insights from Genomic Sequencing Academic Background Genomics has always played an important role in the study and treatment of human diseases. The sodium-dependent multivitamin transporter (SMVT) encoded by the SLC5A6 gene is responsible for the uptake of biotin, pantothenic acid, and α-lipoic ...

Study on GABRA4 Gene Mutations and Neurological Phenotypes

Medicine, Basic Medical Sciences, Neurology, Life Sciences, Biochemistry, Genetics, Biophysics,
GABRA4   Neurological Phenotype   Developmental Delay   Behavioral Abnormalities   Epilepsy  

New Scientific Research Reveals Association Between GABRA4 Gene and Neurological Phenotypes Research Background In recent years, significant progress has been made in the study of epilepsy and developmental disorder syndromes associated with single gene mutations. GABAA receptors (gamma-aminobutyric acid sub-type A receptors, GABAARs) are heterogen...

COQ7 Defect Causes Prenatal Onset of Mitochondrial CoQ10 Deficiency with Cardiomyopathy

Medicine, Endocrinology, Gastroenterology, Cardiovascular System, Life Sciences, Genetics,
COQ7 gene   Mitochondrial CoQ10 deficiency   Cardiomyopathy   Gastrointestinal obstruction   Familial genetics   Therapeutic intervention   Prenatal onset  

Perinatal onset of mitochondrial CoQ10 deficiency due to COQ7 defect with cardiomyopathy and gastrointestinal obstruction Background Coenzyme Q10 (CoQ10) is a lipid-soluble molecule with antioxidant properties and a key component in electron transfer during oxidative phosphorylation in mitochondria. CoQ10 deficiency is a rare mitochondrial metaboli...

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis

Medicine, Pediatrics, Neurosurgery, Life Sciences, Genetics,
ERF gene   Noonan syndrome   craniosynostosis   developmental delay   facial features  

Correlation between Erf Gene Loss-of-Function Variants and Noonan Syndrome-like Phenotype - With or Without Craniosynostosis Research Background Members of the ETS transcription factor family play a crucial role in RAS-MAPK signal transduction, regulating the expression of “early response” genes and other functionally related genes. Among them, ETS...