Phenopackets

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

[Melissa Haendel @ontowonka]

Honored to represent our #clinPheno @GA4GH workstream and all the great contributors! @MonarchInit

[GA4GH @GA4GH]

Melissa Haendel (@ontowonka, @MonarchInit) shares about the recently approved #standard Phenopackets. Read about #phenopackets on the GA4GH website: https://t.co/Uf8fNFAI0P

[Monarch Initiative @MonarchInit]

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 https://t.co/UMez39fk9e

[Melissa Haendel @ontowonka]

#GA4GH2017 Patients want to know all the people that help end their diagnostic odyssey. Not just #GlobalDataSharing, but #AttributionForAll

[Julie McMurry, MPH @figgyjam]

Poster: Deep phenotyping for patients by patients: a lay-friendly version of the HPO #ASHG17 @hp_ontology https://t.co/GPTOrPGUub

[Melissa Haendel @ontowonka]

#GA4GH17 slides from Clinical & Phenotype capture workstream: https://t.co/T4mmhKY1q0 #ontologies @phenopack @CI4CC @MonarchInit

[Melissa Haendel @ontowonka]

My slides for #TBICRI17 Deep Phenotyping session are posted: https://t.co/DIdGmJHft2 #raredisease @MonarchInit @hp_ontology

[Phenopackets @phenopack]

If you would like to subscribe to Phenopackets updates, please feel free to join our google group at https://t.co/NgJSlnsens

[SDG Ontology @sdgOntology]

The high-potential link between @phenopack and @Pensoft #nanopubs presented by @LyuboPenev at #tdwg16

[Phenopackets @phenopack]

@myrmoteras @EvoMRI @plazi_ch @ontowonka @chrismungall We are a community effort and would welcome tooling to facilitate this extraction.

[Julie McMurry, MPH @figgyjam]

4. @phenopack & #prefixcommons are community-driven standards with low barriers to entry, near-term wins, and scalable by design. #BD2K_AHM

[Julie McMurry, MPH @figgyjam]

TL;DR @phenopack = phenotype exchange format that's species agnostic, broadly applicable & covers both simple & complex use cases. #BD2K_AHM

[Julie McMurry, MPH @figgyjam]

To facilitate cohort dev, patients need tools & agency to share their phenotypes & sequencing #bd2k_ahm #personalizedmedicine @phenopack

[Melissa Haendel @ontowonka]

.@calif001 @US_FDA need computable, temporal phenotypes for #PrecisionMedicine and #TranslationalScience @phenopack @NIH_BD2K #BD2K_AHM

[Julie McMurry, MPH @figgyjam]

NAR preprint available in @biorxivpreprint. @MonarchInit: Insights across species reveal human disease mechanisms
https://t.co/kxlXZjiEFL