Nuno Saraiva-Agostinho

The paper maps MAVE data to human reference sequences to improve variant functional assay utility for genomics applications.

betAS provides a method to analyze and visualize differential alternative splicing using beta distributions to quantify inclusion levels and their precision across groups.

voyAGEr provides a web tool to analyze age-related gene expression changes in 49 human tissues using GTEx RNA-seq data, enabling visualization and statistical exploration of sex- and tissue-specific transcriptomic alterations.

SUsPECT improves variant annotation by using custom long-read transcriptomes to better predict variant effects in clinical settings.

psichomics provides a user-friendly R package for alternative splicing analysis, integrating RNA-seq data with clinical features to identify splicing signatures and prognostic factors in breast cancer.