SchemaBio_Bundle / README_EN.md
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metadata
language:
  - en
license: other
tags:
  - biology
  - genomics
  - medical
  - bioinformatics
  - variant-annotation
  - clinical
  - wgs
  - wes
pretty_name: SchemaBio Bundle

🧬 SchemaBio Bundle

English | 中文

📖 Overview

This dataset is a comprehensive, meticulously curated, one-stop annotation library designed for bioinformatics and genomic variant analysis (e.g., WES/WGS pipelines). It aggregates essential variant effect predictors, clinical databases, and genomic reference files into a unified repository, significantly reducing the time spent on data collection, format alignment, and preprocessing.

🗂️ Included Data & Sources

This repository includes data from the following categories:

  1. Variant Effect Predictors & Scores: AlphaMissense, EVOScore2, Pangolin.
  2. Clinical & Population Frequencies: gnomAD, CIViC, mskcc_hotspot.
  3. Genomic References & Regions: UCSC annotations (cytoband, ncbiRefSeq.gtf), Ensembl references (GRCh38/37 FASTA, vep_cache), ManeSelectBed.

⚖️ Licensing & Commercial Use

Great news: All underlying datasets included in this repository currently permit commercial use, provided that users strictly adhere to their respective attribution and share-alike requirements.

Because this repository acts as an aggregator, it does not fall under a single license. You must comply with the individual licenses of the respective underlying data sources. The table below outlines the specific license for each component:

📊 Database Licenses Summary

Database / Source Version Official License Commercial Use Redistribution Key Requirements & Notes
AlphaMissense v3 CC BY 4.0 ✅ Allowed ✅ Allowed Must attribute to DeepMind Technologies Limited.
EVOScore2 20260128 MIT ✅ Allowed ✅ Allowed Must include the original copyright notice.
Pangolin v1 CC BY 4.0 ✅ Allowed ✅ Allowed Must provide proper attribution.
ManeSelectBed v49 MIT ✅ Allowed ✅ Allowed Must include the original copyright notice.
mskcc_hotspot v2 ODbL ✅ Allowed ✅ Allowed Share-Alike: If you modify/adapt this database, the derivative must also be ODbL.
CIViC 20260301 CC0 1.0 ✅ Allowed ✅ Allowed Public Domain. No restrictions.
gnomAD v4.1 Unrestricted ✅ Allowed ✅ Allowed Broad Institute claims no restrictions on use.
UCSC Data / Public Domain ✅ Allowed ✅ Allowed Publicly funded data, free for all uses.
Ensembl Data release 115 Unrestricted ✅ Allowed ✅ Allowed EMBL-EBI places no restrictions on use or redistribution.

Disclaimer: The creator of this combined dataset claims no ownership over the original source data. Users are solely responsible for ensuring their downstream use complies with the original data providers' terms.