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RNA foundation model trained on millions of RNA sequences for generalist RNA sequence understanding, enabling downstream structure prediction, function annotation, and representation learning for non-coding RNAs (ml4bio, 372+ stars)

State-of-the-art pretrained language models for proteins trained on thousands of GPUs and Google TPUs using Transformer architectures, enabling protein property prediction, feature extraction, and transfer learning across diverse downstream tasks (1.3K+ stars, MIT, 2020-2026)

GRIDSS: the Genomic Rearrangement IDentification Software Suite.

General purpose tools for high-throughput catalysis.

systemPipeShiny (SPS) extends the widely used systemPipeR (SPR) workflow environment with a versatile graphical user interface provided by a Shiny App. This allows non-R users, such as experimentalists, to run many systemPipeR’s workflow designs, control, and visualization functionalities interactively without requiring knowledge of R. Most importantly, SPS has been designed as a general purpose framework for interacting with other R packages in an intuitive manner. Like most Shiny Apps, SPS can be used on both local computers as well as centralized server-based deployments that can be accessed remotely as a public web service for using SPR’s functionalities with community and/or private data. The framework can integrate many core packages from the R/Bioconductor ecosystem. Examples of SPS’ current functionalities include: (a) interactive creation of experimental designs and metadata using an easy to use tabular editor or file uploader; (b) visualization of workflow topologies combined with auto-generation of R Markdown preview for interactively designed workflows; (d) access to a wide range of data processing routines; (e) and an extendable set of visualization functionalities. Complex visual results can be managed on a 'Canvas Workbench’ allowing users to organize and to compare plots in an efficient manner combined with a session snapshot feature to continue work at a later time. The present suite of pre-configured visualization examples. The modular design of SPR makes it easy to design custom functions without any knowledge of Shiny, as well as extending the environment in the future with contributions from the community.

Collection of tools for working with BAM files.

Automated hypothesis testing with agentic sequential falsifications

DNAfusion can identify gene fusions such as EML4-ALK based on paired-end sequencing results. This package was developed using position deduplicated BAM files generated with the AVENIO Oncology Analysis Software. These files are made using the AVENIO ctDNA surveillance kit and Illumina Nextseq 500 sequencing. This is a targeted hybridization NGS approach and includes ALK-specific but not EML4-specific probes.

Universal medical image segmentation foundation model trained on 1.57M image-mask pairs across 10 imaging modalities and 30+ cancer types (Nature Communications 2024)

Peak Detection in Mass Spectrometry data is one of the important preprocessing steps. The performance of peak detection affects subsequent processes, including protein identification, profile alignment and biomarker identification. Using Continuous Wavelet Transform (CWT), this package provides a reliable algorithm for peak detection that does not require any type of smoothing or previous baseline correction method, providing more consistent results for different spectra. See <doi:10.1093/bioinformatics/btl355} for further details.

AI-powered tool that automatically converts academic papers (PDF) into presentation slides

Comprehensive collection of papers on unifying LLMs and knowledge graphs

Unified benchmarking framework for protein representation learning, providing standardized interfaces for pre-training and diverse downstream tasks including structure prediction, fitness prediction, and property prediction across multiple protein datasets and model architectures (ICLR 2024, 273+ stars, MIT License)

SEraster is a rasterization preprocessing framework that aggregates cellular information into spatial pixels to reduce resource requirements for spatial omics data analysis. SEraster reduces the number of spatial points in spatial omics datasets for downstream analysis through a process of rasterization where single cells’ gene expression or cell-type labels are aggregated into equally sized pixels based on a user-defined resolution. SEraster is built on an R/Bioconductor S4 class called SpatialExperiment. SEraster can be incorporated with other packages to conduct downstream analyses for spatial omics datasets, such as detecting spatially variable genes.

This package provides functions for differential chromatin interaction analysis between two single-cell Hi-C data groups. It includes tools for imputation, normalization, and differential analysis of chromatin interactions. The package implements pooling techniques for imputation and offers methods to normalize and test for differential interactions across single-cell Hi-C datasets.

XAItest is an R Package that identifies features using eXplainable AI (XAI) methods such as SHAP or LIME. This package allows users to compare these methods with traditional statistical tests like t-tests, empirical Bayes, and Fisher's test. Additionally, it includes simThresh, a system that enables the comparison of feature importance with p-values by incorporating calibrated simulated data.

Implements bindings for SQL tables that are compatible with Bioconductor S4 data structures, namely the DataFrame and DelayedArray. This allows SQL-derived data to be easily used inside other Bioconductor objects (e.g., SummarizedExperiments) while keeping everything on disk.

Package designed to aid in classifying cells from single-cell RNA sequencing data using external reference data (e.g., bulk RNA-seq, scRNA-seq, microarray, gene lists). A variety of correlation based methods and gene list enrichment methods are provided to assist cell type assignment.

Starting from one SBML file, it extracts information from each listOfCompartments, listOfSpecies and listOfReactions element by saving them into data frames. Each table provides one row for each entity (i.e. either compartment, species, reaction or speciesReference) and one set of columns for the attributes, one column for the content of the 'notes' subelement and one set of columns for the content of the 'annotation' subelement.

SpatialDE is a method to find spatially variable genes (SVG) from spatial transcriptomics data. This package provides wrappers to use the Python SpatialDE library in R, using reticulate and basilisk.

Mass cytometry enables the simultaneous measurement of dozens of protein markers at the single-cell level, producing high dimensional datasets that provide deep insights into cellular heterogeneity and function. However, these datasets often contain unwanted covariance introduced by technical variations, such as differences in cell size, staining efficiency, and instrument-specific artifacts, which can obscure biological signals and complicate downstream analysis. This package addresses this challenge by implementing a robust framework of linear models designed to identify and remove these sources of unwanted covariance. By systematically modeling and correcting for technical noise, the package enhances the quality and interpretability of mass cytometry data, enabling researchers to focus on biologically relevant signals.

Supplies AnnotationHub with MassBank metabolite/compound annotations bundled in CompDb SQLite databases. CompDb SQLite databases contain general compound annotation as well as fragment spectra representing fragmentation patterns of compounds' ions. MassBank data is retrieved from https://massbank.eu/MassBank and processed using helper functions from the CompoundDb Bioconductor package into redistributable SQLite databases.

PyTorch implementation of neural ODEs

Pathview is a tool set for pathway based data integration and visualization. It maps and renders a wide variety of biological data on relevant pathway graphs. All users need is to supply their data and specify the target pathway. Pathview automatically downloads the pathway graph data, parses the data file, maps user data to the pathway, and render pathway graph with the mapped data. In addition, Pathview also seamlessly integrates with pathway and gene set (enrichment) analysis tools for large-scale and fully automated analysis.

Functions to reconstruct case and control AFs from summary statistics. One function uses OR, NCase, NControl, and SE(log(OR)). The second function uses OR, NCase, NControl, and AF for the whole sample.

General-purpose pathology foundation model pretrained on 100K+ diagnostic whole-slide images across 20 major tissue types, achieving state-of-the-art transfer learning across 30+ clinical tasks and serving as a universal feature extractor for digital pathology (Mahmood Lab, 722+ stars)

Burrow-Wheeler Aligner for pairwise alignment between DNA sequences.

The Lheuristic package identifies scatterpots that follow and L-shaped, negative distribution. It can be used to identify genes regulated by methylation by integration of an expression and a methylation array. The package uses two different methods to detect expression and methyaltion L- shapped scatterplots. The parameters can be changed to detect other scatterplot patterns.

tLOH, or transcriptomicsLOH, assesses evidence for loss of heterozygosity (LOH) in pre-processed spatial transcriptomics data. This tool requires spatial transcriptomics cluster and allele count information at likely heterozygous single-nucleotide polymorphism (SNP) positions in VCF format. Bayes factors are calculated at each SNP to determine likelihood of potential loss of heterozygosity event. Two plotting functions are included to visualize allele fraction and aggregated Bayes factor per chromosome. Data generated with the 10X Genomics Visium Spatial Gene Expression platform must be pre-processed to obtain an individual sample VCF with columns for each cluster. Required fields are allele depth (AD) with counts for reference/alternative alleles and read depth (DP).

Classes for storing very large GWAS data sets and annotation, and functions for GWAS data cleaning and analysis.

A pipeline for the analysis of GRO-seq data.

A Swiss Army knife for genome arithmetic.

Base-resolution copy number analysis of viral genome. Utilizes base-resolution read depth data over viral genome to find copy number segments with two-dimensional segmentation approach. Provides publish-ready figures, including histograms of read depths, coverage line plots over viral genome annotated with copy number change events and viral genes, and heatmaps showing multiple types of data with integrative clustering of samples.

Simple visualizations of alignments of DNA or AA sequences as well as arbitrary strings. Compatible with Biostrings and ggplot2. The plots are fully customizable using ggplot2 modifiers such as theme().

Generate comprehensive reviews from arXiv papers and convert to blog posts

Microsoft's AI-powered ab initio biomolecular dynamics simulation achieving quantum-mechanical accuracy for proteins with 10,000+ atoms, orders of magnitude faster than DFT using protein fragmentation and ML force fields (Nature 2024)

A database system designed to store, organize, and manage large-scale nucleotide sequencing read data (like PacBio reads) for the Dazzler genome assembler

Equivariant graph attention Transformer (ICLR2023)

The eiR package provides utilities for accelerated structure similarity searching of very large small molecule data sets using an embedding and indexing approach.

A system for rapidly aligning entire genomes, whether in complete or draft form.

An easy to use tool that can compare splicing events in tumor and normal tissue samples using either a user generated matrix, or data from The Cancer Genome Atlas (TCGA). This package generates a matrix of splicing outliers that are significantly over or underexpressed in tumors samples compared to normal denoted by chromosome location. The package also will calculate the splicing burden in each tumor and characterize the types of splicing events that occur.

Comprehensive survey of foundation models for weather and climate data understanding

This package contains R functions to predict biological variables to from placnetal DNA methylation data generated from infinium arrays. This includes inferring ethnicity/ancestry, gestational age, and cell composition from placental DNA methylation array (450k/850k) data.

FeatSeekR performs unsupervised feature selection using replicated measurements. It iteratively selects features with the highest reproducibility across replicates, after projecting out those dimensions from the data that are spanned by the previously selected features. The selected a set of features has a high replicate reproducibility and a high degree of uniqueness.

Kolmogorov-Arnold Networks with learnable activation functions on edges instead of fixed node activations, achieving strong performance in function fitting, PDE solving, and scientific discovery with enhanced interpretability as an alternative to MLPs (MIT, 16.3K+ stars, 2024)

Git repo for Bio::DB::HTS module on CPAN, providing Perl links into HTSlib

A module for solving and visualizing the Schrödinger equation.

metagenomeSeq is designed to determine features (be it Operational Taxanomic Unit (OTU), species, etc.) that are differentially abundant between two or more groups of multiple samples. metagenomeSeq is designed to address the effects of both normalization and under-sampling of microbial communities on disease association detection and the testing of feature correlations.

Single-cell transformer foundation model pretrained on 104M human transcriptomes via masked gene prediction, enabling transfer learning for cell type classification, gene network analysis, and in silico perturbation with limited labeled data (Nature 2023, V2 2024)