PedroBarbosa/Prepare_SplicingPredictors

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GNU General Publi...
Created over 2 years ago
Updated over 1 year ago

PedroBarbosa/Prepare_SplicingPredictors

PedroBarbosa

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Set of scripts to prepare the input to run several splicing-related tools from VCF files

VETA

VETA - A simple tool do evaluate variant predictors

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

Jupyter Notebook

deep_intronic_variants

This is a repository with a set of manually curated intronic variants causing human diseases.

DeepIntronic_Benchmark

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

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

Jupyter Notebook