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Pedro's Projects

deepintronic_benchmark icon deepintronic_benchmark

Repo that contains the data and code to reproduce the evaluation of computational methods to predict deep intronic variation.

dress icon dress

A toolkit for studying RNA splicing using deep learning models.

mutsplice icon mutsplice

Targeted sequence perturbations at motif locations to study SpliceAI sensitivity to RBP binding features

paper_hcm_benchmark icon paper_hcm_benchmark

This repo contains the code to reproduce the results obtained in the benchmark of prediction tools to predict Hypertrophic Cardiomyopathy associated variants

synthetic_datasets_generation icon synthetic_datasets_generation

Code to reproduce the results from the GECCO'24 paper on generating synthetic datasets in genomicsned in the benchmark of prediction tools to predict Hypertrophic Cardiomyopathy associated variants

veta icon veta

VETA - A simple tool do evaluate variant predictors

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