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An R package to process and analyze transcriptomic data

R 19 2 Updated Jun 18, 2025

Tool for plotting sequencing data along genomic coordinates.

Python 339 15 Updated Dec 12, 2025

This package provides a function to reformat lists of genome coverage files, such as bigWig of bam files, into the directory structure of a UCSC Track Hub ready to be visualized in the genome brows…

HTML 29 Updated Apr 29, 2024

a framework for training sequence-level deep learning networks

Jupyter Notebook 400 91 Updated Dec 16, 2024

CADD-SV – a framework to score the effect of structural variants

Python 18 6 Updated Feb 11, 2026

Tokenizers and Machine Learning Models for biological sequence data

C++ 25 4 Updated Sep 27, 2024

Interactive deep learning book with multi-framework code, math, and discussions. Adopted at 500 universities from 70 countries including Stanford, MIT, Harvard, and Cambridge.

Python 28,593 5,016 Updated Aug 18, 2024

The fastai book, published as Jupyter Notebooks

Jupyter Notebook 24,857 9,454 Updated Aug 16, 2024
Java 8 Updated Jul 17, 2015

Toolset for SV simulation, comparison and filtering

C++ 415 51 Updated Dec 1, 2023

MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize the position of their mutation of interest in the context of general population-based genetic …

Python 10 2 Updated Feb 11, 2026
Python 11 3 Updated Dec 7, 2022
Python 74 13 Updated Mar 13, 2026

deep residual neural network for classifying the pathogenicity of missense mutations.

Python 115 32 Updated Aug 25, 2021
Python 43 9 Updated Jun 16, 2025

structural variant calling and genotyping with existing tools, but, smoothly.

Go 264 21 Updated Jun 17, 2024

Viola is a flexible and powerful python package designed specifically for analysis of genomic structural variant (SV) signatures.

Python 28 4 Updated Jul 26, 2024

Bayesian genotyper for structural variants

Python 136 57 Updated Mar 6, 2021

Structural Variant Index

C 76 5 Updated Dec 13, 2024

The Ensembl Variant Effect Predictor predicts the functional effects of genomic variants

Perl 542 178 Updated Apr 9, 2026

Category-wide association study (CWAS) (Werling et al., 2018; An et al., 2018)

Python 10 2 Updated Apr 5, 2026
Python 4 1 Updated Apr 10, 2022

MuRaL is a deep learning framework for building base-resolution mutation rate maps.

Python 21 6 Updated Nov 20, 2025

Elucidating the Utility of Genomic Elements with Neural Nets

Jupyter Notebook 69 6 Updated Dec 2, 2024

🌲 An easy-to-use and scalable toolkit for genomic alteration signature (a.k.a. mutational signature) analysis and visualization in R https://shixiangwang.github.io/sigminer/reference/index.html

R 159 20 Updated Dec 25, 2025
Python 51 11 Updated Aug 27, 2019

List of gene lists for genomic analyses.

Python 227 81 Updated Jun 24, 2022
HTML 14 4 Updated Oct 20, 2022

Official code repository for GATK versions 4 and up

Java 1,933 625 Updated Apr 9, 2026