Skip to content

Navigation Menu

Appearance settings

- AI CODE CREATION
  GitHub CopilotWrite better code with AI
  GitHub Copilot appDirect agents from issue to merge
  MCP Registry^NewIntegrate external tools
- DEVELOPER WORKFLOWS
  ActionsAutomate any workflow
  CodespacesInstant dev environments
  IssuesPlan and track work
  Code ReviewManage code changes
- APPLICATION SECURITY
  GitHub Advanced SecurityFind and fix vulnerabilities
  Code securitySecure your code as you build
  Secret protectionStop leaks before they start
- EXPLORE
  Why GitHub
  Documentation
  Blog
  Changelog
  Marketplace
View all features
- BY COMPANY SIZE
  Enterprises
  Small and medium teams
  Startups
  Nonprofits
- BY USE CASE
  App Modernization
  DevSecOps
  DevOps
  CI/CD
  View all use cases
- BY INDUSTRY
  Healthcare
  Financial services
  Manufacturing
  Government
  View all industries
View all solutions
- EXPLORE BY TOPIC
  AI
  Software Development
  DevOps
  Security
  View all topics
- EXPLORE BY TYPE
  Customer stories
  Events & webinars
  Ebooks & reports
  Business insights
  GitHub Skills
- SUPPORT & SERVICES
  Documentation
  Customer support
  Community forum
  Trust center
  Partners
View all resources
- COMMUNITY
  GitHub SponsorsFund open source developers
- PROGRAMS
  Security Lab
  Maintainer Community
  Accelerator
  GitHub Stars
  Archive Program
- REPOSITORIES
  Topics
  Trending
  Collections
- ENTERPRISE SOLUTIONS
  Enterprise platformAI-powered developer platform
- AVAILABLE ADD-ONS
  GitHub Advanced SecurityEnterprise-grade security features
  Copilot for BusinessEnterprise-grade AI features
  Premium SupportEnterprise-grade 24/7 support
Pricing

Search code, repositories, users, issues, pull requests...

Search

Clear

Search syntax tips

Provide feedback

We read every piece of feedback, and take your input very seriously.

Include my email address so I can be contacted

Saved searches

Use saved searches to filter your results more quickly

Name

Query

To see all available qualifiers, see our documentation.

Appearance settings

You signed in with another tab or window. Reload to refresh your session. You signed out in another tab or window. Reload to refresh your session. You switched accounts on another tab or window. Reload to refresh your session.

Dismiss alert

Uh oh!

There was an error while loading. Please reload this page.

GooglingTheCancerGenome / sv-channels Public

Notifications You must be signed in to change notification settings
Fork 6
Star 40

Code
Issues 21
Pull requests 2
Actions
Projects
Wiki
Security and quality
Insights

Additional navigation options

Code
Issues
Pull requests
Actions
Projects
Wiki
Security and quality
Insights

On the Human Reference genome versions

Jump to bottom

Luca Santuari edited this page Dec 30, 2019 · 1 revision

An overview of discrepancies among version by the GATK team. Here is a page from DNAnexus.

Wiki pages Pages 9

Home
1000 Genomes Project SV: Phase 3
Generation of simulated data
On the Human Reference genome versions
Step 1: Description of output files needed for generating chr_array
Step 2: Generation of chromosome arrays
Step 3.1 and 3.2: Generation of labels and window (pairs) data for split reads (1) and SV filtering (2) approaches
Step 3.3: Untargeted mode
Step 4.1 and 4.2: Training and testing in targeted (split reads, 1) and SV filtering (2) modes

Clone this wiki locally

Footer

© 2026 GitHub, Inc.

Footer navigation

Terms
Privacy
Security
Status
Community
Docs
Contact

You can’t perform that action at this time.