Publications by authors named "Vassilis Ragoussis"
Article Synopsis
- Whole genome sequencing (WGS) is being increasingly used to diagnose rare diseases, but traditional methods often have low diagnostic yields, typically 25-30%.
- In a study involving 122 rare disease patients and their relatives, a comprehensive bioinformatics approach led to a diagnostic yield of 35%, with 39% solved when including novel gene candidates.
- The study also identified several novel genes, expanded the phenotypic understanding of existing conditions, and resulted in critical changes to clinical diagnoses and treatments for some patients.
The RNA polymerase II complex (pol II) is responsible for transcription of all ∼21,000 human protein-encoding genes. Here, we describe sixteen individuals harboring de novo heterozygous variants in POLR2A, encoding RPB1, the largest subunit of pol II. An iterative approach combining structural evaluation and mass spectrometry analyses, the use of S.
View Article and Find Full Text PDFPrecision medicine (PM) can be defined as a predictive, preventive, personalized, and participatory healthcare service delivery model. Recent developments in molecular biology and information technology make PM a reality today through the use of massive amounts of genetic, 'omics', clinical, environmental, and lifestyle data. With cancer being one of the most prominent public health threats in developed countries, both the research community and governments have been investing significant time, money, and efforts in precision cancer medicine (PCM).
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