Sequana: a set of Snakemake NGS pipelines

Materials for Spring 2018 Applied Genomics Course

repository of the 3-day course "First steps with Python in Life Sciences" from SIB-training

Rapid discovery of novel prophages using biological feature engineering and machine learning

A Mendelian approach to variant effect prediction built in keras

Tutorials for data science and bioinformatics

A transformer model to predict pathogenic mutations

Clinical Variant Annotation Pipeline

3ASC: variant prioritization tool leveraging multiple instance learning for rare Mendelian disease genomic testing

The Rank order prediction of genes for a given set of phenotypes for mendelian and rare disease framework (RPAR)

Script to parse annotated vcf files (VEP,snpEff,ANNOVAR) to a csv table

Indonesia Exome Rare Disease Variant Discovery Pipeline. Phenotype analysis part available on Streamlit and PyPi

PRP: Pathogenic Risk Prediction for Rare Nonsynonymous Single Nucleotide Variants