🏆 A ranked list of awesome machine learning Python libraries. Updated weekly.

Pipeline for CNV detection in targeted exome NGS data

CABANA is an intuitive visualization tool for copy number changes from NGS data. Core algorithms for academic researchers are available from GitHub (https://github.com/lstlab/CABANA), and for comme…

RETFound - A foundation model for retinal image

Segmented HAPlotype Estimation and Imputation Tool

Toolkit for calling structural variants using short or long reads

Tool to find regions of homozygosity (ROHs) from sequencing data.

Provides mode of inheritance prediction for all possible missense variants in the human genome.

Publication quality NGS track plotting

RNAseq analysis notes from Ming Tang

Splice site prediction using deep neural networks.

Annotation and Ranking of Structural Variation

RNA-seq for Mendelian disease diagnostics: A hands-on tutorial through bioinformatic tools and workflows

Detect germline or somatic variants from normal or tumour/normal whole-genome or targeted sequencing

Super Resolution for images using deep learning.

Official code repository for GATK versions 4 and up