Circular binary segmentation algorithm for copy number data

Tools for working with genomic and high throughput sequencing data.

https://www.sc-best-practices.org

🔬 Path to a free self-taught education in Bioinformatics!

A brief analysis into the November 2022 Meta layoffs, examining which departments were impacted the most.

cfDNA Sequencing Pipeline with UMI

Query Mutated Reads from a Bam

🤗 Transformers: the model-definition framework for state-of-the-art machine learning models in text, vision, audio, and multimodal models, for both inference and training.

DNA-Fountain

Public repository for VariantValidator project

Tool suite for HGVS variant descriptions

scRNAseq analysis notes from Ming Tang

Unix, R and python tools for genomics and data science

A needle plot for mutation data

Essential Cheat Sheets for deep learning and machine learning researchers https://medium.com/@kailashahirwar/essential-cheat-sheets-for-machine-learning-and-deep-learning-researchers-efb6a8ebd2e5

MyVariant.info: A BioThings API for human variant annotations

Official code repository for GATK versions 4 and up

An open source software stack for Real-Time Strategy research on mobile robots

Strelka2 germline and somatic small variant caller

SNV expectation maximisation based mutation calling algorithm aimed at detecting somatic mutations in paired (tumour/normal) cancer samples. Supports both bam and cram format via htslib

A beginner's guide to setting up a development environment on macOS

Materials for SDSS 2019, Bellevue WA

detection of duplications and deletions using Python based machine learning techniques

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

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

VarDict

Lollipop-style mutation diagrams for annotating genetic variations.

Backend server for Genome Nexus

Command-line tools for data analysts at the CMO

3D 180/360 video player for macOS and PSVR