Mathieu Quinodoz, researcher in bioinformatics in our Ophthalmic Genetics Group led by Carlo Rivolta, wins a prize from PRO RETINA Deutschland and Retina Suisse for the project “Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity”.
For this publication Mathieu and his colleagues used a machine learning approach to analyze the within-gene distribution of missense variants observed in hereditary conditions such as retinal degenerations and cancer.
“I am honored to receive the award. With our paper we aim to contribute to generating better and more precise diagnostics of genetic diseases and help physicians and scientists around the world”, says Mathieu, who is the leading scientist of this study.
Read more about the paper here.
Or find the whole publication here.