Phenopackets (@phenopack) header
Phenopackets (@phenopack) profile picture

Phenopackets

@phenopack

Just what you'd think: a sharable packet of phenotype information to aid characterization, #raredisease diagnosis, and #personalizedmedicine.

phenopackets.org
Joined October 2016
  • Tweets15
  • Following22
  • Followers108
Honored to represent our #clinPheno @GA4GH workstream and all the great contributors! @MonarchInit
Melanie Courtot @mcourtot@genomic.social (@mcourtot) profile pictureMelanie Courtot @[email protected]@mcourtot22 Oct 2019
#GA4GHPlenary2019 @ontowonka takes the stage for @GA4GH ClinPheno - congratulations on Phenopackets approval, and proud to support this new standard at @emblebi & Biosamples. Looking forward to more phenotype harmonization.
Image from Melanie Courtot @mcourtot@genomic.social (@mcourtot)
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Phenopackets retweeted
GA4GH (@GA4GH) profile picture
GA4GH@GA4GH22 Oct 2019
Melissa Haendel (@ontowonka, @MonarchInit) shares about the recently approved #standard Phenopackets. Read about #phenopackets on the GA4GH website: fal.cn/34FWV
Image from GA4GH (@GA4GH)
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Over 350 million people are impacted by #RareDisease; you may be one of them. The Monarch Initiative develops free open-access, open-source tools that reveal connections that improve diagnosis and advance research. We welcome feedback. #RareDiseaseDay medium.com/@MonarchInit/rare…
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#GA4GH2017 Patients want to know all the people that help end their diagnostic odyssey. Not just #GlobalDataSharing, but #AttributionForAll
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Poster: Deep phenotyping for patients by patients: a lay-friendly version of the HPO #ASHG17 @hp_ontology doi.org/10.6084/m9.figshare.…
Image from Julie McMurry, MPH (@figgyjam)
Image from Julie McMurry, MPH (@figgyjam)
Image from Julie McMurry, MPH (@figgyjam)
Image from Julie McMurry, MPH (@figgyjam)
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#GA4GH17 slides from Clinical & Phenotype capture workstream: slideshare.net/mhaendel/ga4g… #ontologies @phenopack @CI4CC @MonarchInit
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My slides for #TBICRI17 Deep Phenotyping session are posted: slideshare.net/mhaendel/deep… #raredisease @MonarchInit @hp_ontology
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If you would like to subscribe to Phenopackets updates, please feel free to join our google group at bit.ly/phenopackets-group
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Phenopackets retweeted
SDG Ontology (@sdgOntology) profile picture
SDG Ontology@sdgOntology7 Dec 2016
The high-potential link between @phenopack and @Pensoft #nanopubs presented by @LyuboPenev at #tdwg16
Image from SDG Ontology (@sdgOntology)
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4. @phenopack & #prefixcommons are community-driven standards with low barriers to entry, near-term wins, and scalable by design. #BD2K_AHM
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TL;DR @phenopack = phenotype exchange format that's species agnostic, broadly applicable & covers both simple & complex use cases. #BD2K_AHM
Image from Julie McMurry, MPH (@figgyjam)
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To facilitate cohort dev, patients need tools & agency to share their phenotypes & sequencing #bd2k_ahm #personalizedmedicine @phenopack
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.@calif001 @US_FDA need computable, temporal phenotypes for #PrecisionMedicine and #TranslationalScience @phenopack @NIH_BD2K #BD2K_AHM
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NAR preprint available in @biorxivpreprint. @MonarchInit: Insights across species reveal human disease mechanisms bit.ly/biorxive-monarch-2016
Image from Julie McMurry, MPH (@figgyjam)
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