#ga4gh — Public Fediverse posts

📅 July 23: Alex Wagner (Nationwide Children's Hospital) joins the GHGA lecture series to discuss VRS—a @ga4gh standard for consistent genetic variant exchange. Don’t miss it!
🔗 Register: https://dkfz-de.zoom.us/meeting/register/x-x6EwMsRAiWm-OvR6Vi8g#/registration

#Genomics #GA4GH #VRS #GHGA

Using htsget-rs GA4GH's public endpoint https://umccr.org/blog/htsget-rs-crypt4gh/ #GA4GH #bioinformatics

Working on #GA4GH projects under VRSed conditions.

@a ¯\_(ツ)_/¯

As one of the #GA4GH Beacon leads I’m happy about seeing the increasing uptake of this genomic data discovery protocol - and we try to help with our own “bycon” implementation (github.com/progenetix/bycon/; the one running progenetix.org). But increasing uptake => more requests for help & support ¯\_(ツ)_/¯

From: @elixir_europe
https://mstdn.science/@elixir_europe/112060077147997049

On my way to the #GA4GH plenary in San Francisco. I hope this train in #zurich will bring me there…

Having a blast at the #VICC #CIViC #ClinGen hackathon reception at #CGC2023, sponsored by the Global Alliance for Genomics and Health #GA4GH

Current #GA4GH #ELIXIREurope #Beacon protocol work mode: Tuscan.

A warm welcome to Nara Sobreira as my new co-lead in the #GA4GH Discovery work stream! Let’s work on making genomic data sharing for rare diseases and cancer a bit easier :-) https://www.ga4gh.org/news_item/ga4gh-discovery-work-stream-welcomes-new-co-lead-nara-sobreira-of-johns-hopkins-medicine/

@brembs Sure; trying; also #GA4GH, #ELIXIREurope … either “our communications team will look into this” or (for smaller projects) even a pre-bird site status quo.

@fiamh … too late for #GA4GH Connect where at least somebody may have recognized it (but probably fewer my “first time I heard of Theranos I said ‘only idiots and/or ppl. w/o any medical lab knowledge; or investors looking into a covering-the-market scheme will fall for it’” gloating).

#theranos

I forgot about that - sometimes a leaky memory is a blessing… Now let’s talk about date/time representation to get me worked up a bit (I once wrote a page for #ga4gh … https://schemablocks.org/standards-recommendations/#dates-times to settle this for #genomics but obviously #xkcd had been there before…).

From: @tba
https://chaos.social/@tba/110096186773837597

@wes_goar presenting on the #GA4GH #VRS standard at #PSB23, and illustrating the challenges of standardizing concepts across genomics communities (i.e. VCF, HGVS, PGx, etc.)

Check out the associated publication: http://psb.stanford.edu/psb-online/proceedings/psb23/goar.pdf

@ewanbirney @andganna we created #arvados to help orgs with biomedical data-management and analyses as well as avoid bespoke toolsets / infrastructure.♥️

Arvados is 100% Free and Open Source Software with commercial support subscriptions available from my employer.

Ideally several orgs -- all interoperating around #GA4GH standards -- could collaborate on a meaningful project.

Would love to see Arvados move out of pharma to broader adoption.

https://arvados.org

Hi everyone, here’s my go at an #introduction. I’m Alex, a Principal Investigator at the Institute for Genomic Medicine at Nationwide Children’s Hospital.

My lab works on models and tools for standardizing the representation and interpretation of genomic variants in cancer, with a focus on improving knowledge computability.

I spend a lot of time working in consortia settings on things like #GA4GH VRS (“verse”) and the #HGVS nomenclature.

I’m excited to be on Mastodon and genomic.social!

Nice overview of EU #Data #Governance Act from #GA4GH - DGA will pave way for European "data spaces" + hopefully make information ‘as open as possible, as closed as necessary’ w/ key #DataSharing infrastructure as well as a key bridge w/ #GDPR by requiring practical tools for individuals (and companies) to exercise their rights Link: https://www.ga4gh.org/news/ga4gh-gdpr-briefs-the-eu-data-governance-act-new-pathways-for-consented-re-use-of-information/

<test, #introduction, two-three>

Same username, same profile, still same job - computational biologist in Melbourne working on (clinical) cancer #genomics, standards via #GA4GH and national infrastructure as part of #AustralianGenomics