Tiziano Tuccinardi, PhD - 'In silico pathogenicity prediction of missense mutations'
- When Jun 11, 2024 from 12:00 PM to 01:15 PM (Europe/Berlin / UTC200)
- Contact Name Brunella Franco
- Contact Phone 08119230659
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- https://www.tigem.it/newsroom/seminars/tiziano-tuccinardi-phd-in-silico-pathogenicity-prediction-of-missense-mutations
- Tiziano Tuccinardi, PhD - 'In silico pathogenicity prediction of missense mutations'
- 2024-06-11T12:00:00+02:00
- 2024-06-11T13:15:00+02:00
Tiziano Tuccinardi, PhD
Abstract
The use of in silico pathogenicity predictions as evidence when interpreting genetic variants is widely accepted as part of standard variant classification guidelines. However, despite advances in computational prediction, classifying missense variants into pathogenic or benign remains a major challenge. By using the retinal pigment epithelium 65 kDa protein (RPE65) as a case study, molecular modeling techniques combined with a tailored consensus bioinformatic strategy will be illustrated.
Full Professor of Medicinal Chemistry
Department of Pharmacy
University of Pisa
Abstract
The use of in silico pathogenicity predictions as evidence when interpreting genetic variants is widely accepted as part of standard variant classification guidelines. However, despite advances in computational prediction, classifying missense variants into pathogenic or benign remains a major challenge. By using the retinal pigment epithelium 65 kDa protein (RPE65) as a case study, molecular modeling techniques combined with a tailored consensus bioinformatic strategy will be illustrated.