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...

Structural Variant Calling and Clinical Interpretation in 6224 Unsolved Rare Disease Exomes

Life Sciences, Genetics,
Structural Variants   Rare Disease   Exome Sequencing   Copy-Number Variants   Diagnostics  

Structural Variant Detection and Clinical Interpretation in 6224 Unsolved Rare Disease Exomes Research Background The diagnosis and study of rare diseases have been significant challenges in genetics and clinical medicine. Structural variants (SVs), including large deletions, duplications, inversions, translocations, and more complex events, can di...

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...