Skip to content

wingolab-org/bystro-paper

 
 

Folders and files

NameName
Last commit message
Last commit date

Latest commit

 

History

20 Commits
 
 
 
 
 
 
 
 

Repository files navigation

Bystro Manuscript Repository

This repository contains data pertinent to Bystro's manuscript.

About

Bystro is a free online sequencing annotator coupled with a powerful natural- language search engine. It enables users to upload next generation sequencing data, including large data sets (i.e., up to terabyte-size) and perform complex filtering in a fast and reliable manner.

Try it @ https://bystro.io

Citation

Kotlar AV, Trevino CE, Zwick ME, Cutler DJ, and Wingo TS. Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale. 2018. Genome Biol. Accepted: 04-01-2018.

Changes

Bystro is an actively developed software project and the web application is also updated with updated genomic data as they become available. Thus, we expect queries on exemplar data may change in subtle ways over time. Changes that are likely to alter these results and major version updates will be documented in the Changes.md file in this repository.

Manuscripts

The final manuscript may be found here.

The pre-print manuscript may be found here.

Software

The Bystro command line software and database is available @ https://github.com/akotlar/bystro

Bystro is routinely updated with the additional and updated data sources that may alter results for analyses performed in the manuscripts. These Differences are enumerated in the Changes.md file in this repository.

Data Used

  1. 1000G Phase3 Chr1 50K lines (8MB)
  2. 1000G Phase3 Chr1 100K lines (17MB)
  3. 1000G Phase3 Chr1 150K lines (24MB)
  4. 1000G Phase3 Chr1 200K lines (33MB)
  5. 1000G Phase3 Chr1 250K lines (40MB)
  6. 1000G Phase3 Chr1 300K lines (50MB)
  7. 1000G Phase3 Chr1 1M lines (166MB)
  8. 1000G Phase3 Chr1 2M lines (327MB)
  9. 1000G Phase3 Chr1 4M lines (650MB)
  10. 1000G Phase3 Chr1 (1GB)
  11. 1000G Phase3 (14.5GB)
    • Warning: 853GB uncompressed
  12. 1000G Phase1 (129GB)
    • Warning: 890GB uncompressed
  13. Yen et al. 2017 accuracy test data

Query Accuracy

Compares Bystro to Perl scripts in matching various annotation features
  1. Results and scripts used: Bystro_query_accuracy_comparisons
  2. Full results + raw annotations: Bystro_query_accuracy_comparisons.tar.gz Warning: 1.4GB

Bystro/GEMINI de novo query comparison

Identifying de novo variants using Bystro, compared with GEMINI
  1. Bystro_GEMINI_denovo_comparison

About

Bystro paper custom scripts, query comparison results

Resources

Stars

Watchers

Forks

Releases

No releases published

Packages

 
 
 

Contributors

Languages

  • Perl 100.0%