GIAB call Sept 16 about DeepSomatic and SV visualization

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Zook, Justin M. (Fed)

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Sep 13, 2024, 10:21:35 AMSep 13
to GIAB Analysis Team, Maria, Jimin Park

Dear GIAB analysis team,

 

We are looking forward to seeing many of you on our next GIAB Analysis Team call Monday September 16 at 1pm EDT. We’ll have two primary topics: Jimin Park from UCSC will talk about new results using DeepSomatic to integrate multiple technologies for HG008 somatic small variant calling, and Maria Nattestad from OMGenomics will demonstrate a new version of Ribbon and Splitthreader that we’ve been working on with them to visualize and curate SVs and CNAs in HG008. If you’d like to try out Ribbon/Splitthreader, you can go directly to a chr1-chr5 translocation in HG008 at https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chr1:23272628#ribbon (note that it may take ~30s to load the data).

 

Connection info is:

https://nist.zoomgov.com/j/1608716067?pwd=RG1XMVpnTzZYT0J3WTUwQzBGVndJZz09

Meeting ID: 160 871 6067
Passcode: 726592

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Thanks!

Justin

Zook, Justin M. (Fed)

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Sep 27, 2024, 10:35:17 AMSep 27
to GIAB Analysis Team

Dear GIAB analysis team,

 

We are looking forward to seeing many of you on our next GIAB Analysis Team call Monday September 30 at 1pm EDT. We’ll be talking about our initial curations of somatic structural variants in HG008 and get feedback on our process for tracking these curations on Github. If you’re interested in taking a look at what our initial curations look like, you can see them at https://github.com/jzook/testHG008curation/issues?q=is%3Aissue+is%3Aopen+sort%3Acreated-asc.

 

Also, thanks to all who contributed to HG008 data preprint (https://doi.org/10.1101/2024.09.18.613544) – it’s been getting a lot of interest from the community!

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