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...