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Genomic variant analysis platform

JavaScript 47 10 Updated Jan 26, 2026

A bioinformatics best-practice analysis pipeline for the analysis of shallow whole genome sequencing (sWGS) data for the identification of copy number alterations (CNAs).

Nextflow 17 1 Updated Jul 15, 2026

🐠 Explore Bioinfo Data Ocean 🤿

R 2 Updated Jul 25, 2026

API-first variant triage pipeline combining genomic filtering, annotation, and LLM-driven interpretation for clinical genomics workflows

Python 20 3 Updated Apr 28, 2026

Friends don't let friends make certain types of data visualization - What are they and why are they bad.

R 7,093 286 Updated Sep 3, 2025

Simple and Customizable Tables in `R`

R 336 29 Updated Jul 16, 2026

Template for UKCEH pdf reports composed with Quarto and Typst

Typst 2 Updated Nov 17, 2025

A beautiful, simple, clean, and responsive Jekyll theme for academics

HTML 15,922 13,096 Updated Jul 24, 2026

Ontology-first LinkML schema for Reactome with generated Python models, ontology artifacts, mappings, and docs from one curated source

Python 10 1 Updated Jul 1, 2026

🤖 Open‑source deep-learning-based splice‑site predictor that decodes splicing patterns across species

Python 47 15 Updated Jul 18, 2026

Personal website built with Quarto

HTML 7 4 Updated Jun 12, 2026

Merge per-caller VCF outputs from nf-core/sarek (FreeBayes, HaplotypeCaller, DeepVariant) into a single patient-level VCF

Python 1 Updated Mar 26, 2026

Machine learning preprocessing, exploratory analyses and modeling for somatic cancer variants

Jupyter Notebook 1 Updated May 14, 2026

🦖 ClawBio - The first bioinformatics-native AI agent skill library. Local-first. Reproducible. Open. Free.

Python 1,055 232 Updated Jul 25, 2026

CPIC Data definitions and code to use that data

Java 32 2 Updated Jul 23, 2026

User friendly and accurate binder design pipeline

Python 1,168 267 Updated May 11, 2026

MTBBench is a benchmark designed to evaluate the reasoning capabilities of multimodal large language models (LLMs) in complex clinical decision-making scenarios. It focuses on two core challenges i…

Python 39 8 Updated Oct 23, 2025

A better, faster way to count guides in CRISPR screens.

Rust 35 4 Updated Apr 30, 2026
Jupyter Notebook 36 9 Updated May 20, 2026

An R-package with a modular library for the design and analysis of drug combination screens

R 1 Updated Jul 23, 2026

Pangolin is a deep-learning method for predicting splice site strengths.

Python 93 45 Updated Jun 17, 2024

Modular & interactive analysis components for bioinformatics

R 18 5 Updated Dec 9, 2025

Build SVG Custom User Interface in R, rmd, qmd and Shiny

R 20 Updated Apr 10, 2025

Modeling of time series data for CRISPR KO experiments

Python 39 14 Updated Jul 24, 2026

TrialMatchAI leverages large language models to streamline clinical trial matching by evaluating patient-specific clinical characteristics against trial eligibility criteria and generating relevant…

Python 34 13 Updated Jul 19, 2026

Tools for theming Shiny and R Markdown via Bootstrap 3, 4, or 5.

SCSS 565 70 Updated Jul 17, 2026

Synthetic mutational catalogs and evaluation of tools for fitting mutational signatures

Python 5 2 Updated Nov 17, 2025

Improving Public Access to Aggregate Content of ClinicalTrials.gov

PLpgSQL 185 47 Updated May 22, 2026

An R interface to the GTEx Portal API

R 13 3 Updated Aug 19, 2025

A small command line tool to simplify releasing software by updating all version strings in your source code by the correct increment and optionally commit and tag the changes.

Python 621 41 Updated Jul 20, 2026
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