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README.md CHANGED
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- ---
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- language:
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- - en
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- license: other
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- tags:
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- - biology
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- - genomics
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- - medical
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- - bioinformatics
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- - variant-annotation
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- - clinical
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- - wgs
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- - wes
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- pretty_name: SchemaBio Bundle
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- ---
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-
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- # 🧬 SchemaBio Bundle
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-
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- ## 📖 Overview
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- 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.
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-
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-
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-
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- ## 🗂️ Included Data & Sources
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-
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- This repository includes data from the following categories:
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- 1. **Variant Effect Predictors & Scores:** AlphaMissense, EVOScore2, Pangolin.
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- 2. **Clinical & Population Frequencies:** gnomAD, CIViC, mskcc_hotspot.
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- 3. **Genomic References & Regions:** UCSC annotations (`cytoband`, `ncbiRefSeq.gtf`), Ensembl references (`GRCh38/37 FASTA`, `vep_cache`), ManeSelectBed.
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-
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-
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-
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- ## ⚖️ Licensing & Commercial Use
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-
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- **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.
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-
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- 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:
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-
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- ### 📊 Database Licenses Summary
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-
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- | Database / Source | Version | Official License | Commercial Use | Redistribution | Key Requirements & Notes |
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- | :--- | :--- | :--- | :--- | :--- | :--- |
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- | [**AlphaMissense**](https://zenodo.org/records/10813168) | v3 | **CC BY 4.0** | Allowed | Allowed | Must attribute to DeepMind Technologies Limited. |
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- | [**EVOScore2**](https://huggingface.co/datasets/pzweuj/EVOScore-2) | 20260128 | **MIT** | Allowed | Allowed | Must include the original copyright notice. |
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- | [**Pangolin**](https://zenodo.org/records/15649338) | v1 | **CC BY 4.0** | ✅ Allowed | ✅ Allowed | Must provide proper attribution. |
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- | [**ManeSelectBed**](https://github.com/pzweuj/ManeSelectBed) | v49 | **MIT** | ✅ Allowed | ✅ Allowed | Must include the original copyright notice. |
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- | [**mskcc_hotspot**](https://www.cancerhotspots.org/) | v2 | **ODbL** | ✅ Allowed | ✅ Allowed | **Share-Alike:** If you modify/adapt this database, the derivative must also be ODbL. |
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- | [**CIViC**](https://civicdb.org/welcome) | 20260301 | **CC0 1.0** | ✅ Allowed | ✅ Allowed | Public Domain. No restrictions. |
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- | [**gnomAD**](https://gnomad.broadinstitute.org/) | v4.1 | **Unrestricted** | ✅ Allowed | ✅ Allowed | Broad Institute claims no restrictions on use. |
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- | [**UCSC Data**](https://hgdownload.soe.ucsc.edu/goldenPath) | / | **Public Domain** | ✅ Allowed | ✅ Allowed | Publicly funded data, free for all uses. |
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- | [**Ensembl Data**](https://ftp.ensembl.org/pub/release-115/) | release 115 | **Unrestricted** | ✅ Allowed | ✅ Allowed | EMBL-EBI places no restrictions on use or redistribution. |
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-
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- *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.*
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-
 
 
1
+ ---
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+ language:
3
+ - zh
4
+ license: other
5
+ tags:
6
+ - biology
7
+ - genomics
8
+ - medical
9
+ - bioinformatics
10
+ - variant-annotation
11
+ - clinical
12
+ - wgs
13
+ - wes
14
+ pretty_name: SchemaBio Bundle
15
+ ---
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+
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+ # 🧬 SchemaBio Bundle
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+
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+ [English](./README_EN.md) | 中文
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+
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+ ## 📖 概述
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+ 本数据集是一个全面、精心整理的一站式注释库,专为生物信息学和基因组变异分析设计(如 WES/WGS 流水线)。它将核心的变异效应预测器、临床数据库和基因组参考文件整合到统一的资源库中,大幅减少数据收集、格式对齐和预处理的时间。
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+
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+
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+
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+ ## 🗂️ 包含数据与来源
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+
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+ 本资源库包含以下类别的数据:
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+ 1. **变异效应预测器与评分:** AlphaMissense、EVOScore2、Pangolin。
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+ 2. **临床与人群频率数据:** gnomAD、CIViC、mskcc_hotspot。
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+ 3. **基因组参考与区域:** UCSC 注释文件(`cytoband`、`ncbiRefSeq.gtf`)、Ensembl 参考文件(`GRCh38/37 FASTA`、`vep_cache`)、ManeSelectBed。
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+
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+
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+
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+ ## ⚖️ 许可证与商业使用
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+
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+ **好消息:本资源库包含的所有基础数据集目前均允许商业使用**,前提是用户严格遵守各自的署名和相同方式共享要求。
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+
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+ 由于本资源库作为聚合器,**它不受单一许可证约束**。您必须遵守各基础数据源的单独许可证。下表概述了每个组件的具体许可证:
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+
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+ ### 📊 数据库许可证汇总
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+
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+ | 数据库 / 来源 | 版本 | 官方许可证 | 商业使用 | 再分发 | 关键要求与说明 |
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+ | :--- | :--- | :--- | :--- | :--- | :--- |
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+ | [**AlphaMissense**](https://zenodo.org/records/10813168) | v3 | **CC BY 4.0** | ✅ 允许 | ✅ 允许 | 必须署名 DeepMind Technologies Limited。 |
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+ | [**EVOScore2**](https://huggingface.co/datasets/pzweuj/EVOScore-2) | 20260128 | **MIT** | ✅ 允许 | ✅ 允许 | 必须包含原始版权声明。 |
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+ | [**Pangolin**](https://zenodo.org/records/15649338) | v1 | **CC BY 4.0** | ✅ 允许 | ✅ 允许 | 必须提供适当署名。 |
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+ | [**ManeSelectBed**](https://github.com/pzweuj/ManeSelectBed) | v49 | **MIT** | ✅ 允许 | ✅ 允许 | 必须包含原始版权声明。 |
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+ | [**mskcc_hotspot**](https://www.cancerhotspots.org/) | v2 | **ODbL** | ✅ 允许 | ✅ 允许 | **相同方式共享:** 如果您修改/改编此数据库,衍生作品也必须采用 ODbL 许可证。 |
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+ | [**CIViC**](https://civicdb.org/welcome) | 20260301 | **CC0 1.0** | ✅ 允许 | ✅ 允许 | 公共领域。无限制。 |
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+ | [**gnomAD**](https://gnomad.broadinstitute.org/) | v4.1 | **无限制** | ✅ 允许 | ✅ 允许 | Broad Institute 声明对使用无限制。 |
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+ | [**UCSC Data**](https://hgdownload.soe.ucsc.edu/goldenPath) | / | **公共领域** | ✅ 允许 | ✅ 允许 | 公共资助数据,可自由用于任何用途。 |
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+ | [**Ensembl Data**](https://ftp.ensembl.org/pub/release-115/) | release 115 | **无限制** | 允许 | 允许 | EMBL-EBI 对使用或再分发无限制。 |
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+
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+ *免责声明:本组合数据集的创建者对原始源数据不主张任何所有权。用户需自行确保其下游使用符合原始数据提供者的条款。*
README_EN.md ADDED
@@ -0,0 +1,55 @@
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
1
+ ---
2
+ language:
3
+ - en
4
+ license: other
5
+ tags:
6
+ - biology
7
+ - genomics
8
+ - medical
9
+ - bioinformatics
10
+ - variant-annotation
11
+ - clinical
12
+ - wgs
13
+ - wes
14
+ pretty_name: SchemaBio Bundle
15
+ ---
16
+
17
+ # 🧬 SchemaBio Bundle
18
+
19
+ English | [中文](./README.md)
20
+
21
+ ## 📖 Overview
22
+ 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.
23
+
24
+
25
+
26
+ ## 🗂️ Included Data & Sources
27
+
28
+ This repository includes data from the following categories:
29
+ 1. **Variant Effect Predictors & Scores:** AlphaMissense, EVOScore2, Pangolin.
30
+ 2. **Clinical & Population Frequencies:** gnomAD, CIViC, mskcc_hotspot.
31
+ 3. **Genomic References & Regions:** UCSC annotations (`cytoband`, `ncbiRefSeq.gtf`), Ensembl references (`GRCh38/37 FASTA`, `vep_cache`), ManeSelectBed.
32
+
33
+
34
+
35
+ ## ⚖️ Licensing & Commercial Use
36
+
37
+ **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.
38
+
39
+ 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:
40
+
41
+ ### 📊 Database Licenses Summary
42
+
43
+ | Database / Source | Version | Official License | Commercial Use | Redistribution | Key Requirements & Notes |
44
+ | :--- | :--- | :--- | :--- | :--- | :--- |
45
+ | [**AlphaMissense**](https://zenodo.org/records/10813168) | v3 | **CC BY 4.0** | ✅ Allowed | ✅ Allowed | Must attribute to DeepMind Technologies Limited. |
46
+ | [**EVOScore2**](https://huggingface.co/datasets/pzweuj/EVOScore-2) | 20260128 | **MIT** | ✅ Allowed | ✅ Allowed | Must include the original copyright notice. |
47
+ | [**Pangolin**](https://zenodo.org/records/15649338) | v1 | **CC BY 4.0** | ✅ Allowed | ✅ Allowed | Must provide proper attribution. |
48
+ | [**ManeSelectBed**](https://github.com/pzweuj/ManeSelectBed) | v49 | **MIT** | ✅ Allowed | ✅ Allowed | Must include the original copyright notice. |
49
+ | [**mskcc_hotspot**](https://www.cancerhotspots.org/) | v2 | **ODbL** | ✅ Allowed | ✅ Allowed | **Share-Alike:** If you modify/adapt this database, the derivative must also be ODbL. |
50
+ | [**CIViC**](https://civicdb.org/welcome) | 20260301 | **CC0 1.0** | ✅ Allowed | ✅ Allowed | Public Domain. No restrictions. |
51
+ | [**gnomAD**](https://gnomad.broadinstitute.org/) | v4.1 | **Unrestricted** | ✅ Allowed | ✅ Allowed | Broad Institute claims no restrictions on use. |
52
+ | [**UCSC Data**](https://hgdownload.soe.ucsc.edu/goldenPath) | / | **Public Domain** | ✅ Allowed | ✅ Allowed | Publicly funded data, free for all uses. |
53
+ | [**Ensembl Data**](https://ftp.ensembl.org/pub/release-115/) | release 115 | **Unrestricted** | ✅ Allowed | ✅ Allowed | EMBL-EBI places no restrictions on use or redistribution. |
54
+
55
+ *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.*