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WGS Extract

a desktop tool for verifying, analyzing and manipulating your DTC 30x WGS test results

Current release is Beta v2b (18 Feb 2020):

IMPORTANT: MacOSX Release Patch is available for Version Beta v2b. Fixes the install and start scripts of the program. Adds an Unintall as well. (v1 on 25 April 2020, v3 on 20 Jun 2020, v5 on 31 Oct 2020)

Note: Français Language Patch is available for Version Beta v2b. Adds Français language support to the existing English and Deutsch language support. (1 May 2020)

Note: If working with a Nebula Genomics CRAM file, please check the CRAM to BAM conversrion document. The next release will handle CRAMs and BAMs interchangeably.

This tool is geared toward the needs of genetic genealogy but may be helpful for this looking into health-releated uses of WGS tests. The sub-$500, Direct-to-Consumer (DTC), 30x Whole Genome Sequence (WGS) tests are delivered with basic data files and often some health-related reports. This tool serves to bridge the gap between the WGS files delivered to the genetic genealogy community tools. This tool is designed to be simple, button-push manipulation of WGS files from any source. It hides the scripting of complex bioinformatic tools in the background and automatically determines needed parameters and variances for the data supplied it. For more control over your pipeline, either learn to use the underlying tools directly in a command shell or seek a Galaxy server (such as UseGalaxy . We use the Facebook group Dante Labs and Nebula Genomics Customers for discussions on how to make use of your sub-$500, DTC 30x WGS test results. Bugs, use cases and announcements about this tool happen there. As part of that Facebook groups Files section, you will find a number of useful companion documents and tool references. In particular, start with Bioinformatics for Newbies.

User issues, if not brought up in the Facebook group, should be raised in the user issues section of this site. This issues section is the preferred location so code bugs, use limitations and suggested improvements can be tracked within the development project.

The tool acronym is WGSE and is pronounced as “wig-see”. We encourage this use in English language conversation.

Further documentation beyond the manual link above is available in our WGS Extract Developer’s Documentation Repository.

Developer’s should visit the main GitHub WGS Extract Developers Code Repository. Development issues, code bugs and limitations should be raised in the development issues section so they are tracked till resolved in a release.

The original, first year, historical release is documented here.

This page is located at https://WGSExtract.github.io/ and serves as the new WWW home for the tool. Once the new version without the reference models is released for distribution here, the historical IP-number site link given above will go away. The current manual link of http://bit.ly/36Jdpnq will be redirected to this page as a more permanent link as well. As the need develops, we will create our own Facebook Group for users to raise issues outside of the User Issues Section already mentioned.