A Missense Variant in AIFM1 Caused Mitochondrial Dysfunction and Intolerance to Riboflavin Deficiency

Medicine, Basic Medical Sciences, Neurology, Life Sciences, Cell Biology, Biochemistry, Genetics,
AIFM1   mitochondria   riboflavin   apoptosis   ataxia   neuropathy  

Missense Mutation in AIFM1 Gene Leads to Mitochondrial Dysfunction and Riboflavin Deficiency Intolerance Research Background Mitochondria are double-membrane organelles found in eukaryotic cells with nuclei, primarily producing adenosine triphosphate (ATP) through oxidative phosphorylation to provide cellular energy. Mitochondria have their own gen...

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...

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...