Stream: genomics
Topic: 201801 Connectathon
Kevin Power (Jan 28 2018 at 16:08):
Here is the template to complete for the Track outcomes: If anyone has feedback on these topics, please contact me:
Genomics[edit]
Goal[edit]
Genomic data are of increasing importance to clinical care and secondary analysis. Genomics consists of the Sequence resource and several profiles built on top of existing FHIR resources (DiagnosticReport-genetics profile, DiagnosticOrder-genetics profile, Observation-genetics profile). The Sequence resource is a core resource in FHIR Genomics. It is used to represent complex genetics data. FHIR Genomics focuses on clinical genetics data reporting.
We will also look to compare current FHIR extension model with a component-based model. New genomics IG
Participants[edit]
Names and Company Names
Logos optional
Notable Achievements[edit]
Please limit to one paragraph summary
Screenshots[edit]
1-2 screenshots if relevant and interesting and/or links to further information about implementations / achievements
Discovered issues[edit]
What challenged the group?
What questions did you come away with?
Next Steps[edit]
1 paragraph: now what?
Lloyd McKenzie (Jan 28 2018 at 17:40):
Here's the link to the "genetics-unified" google doc, which now includes the new diagrams: https://docs.google.com/document/d/1juWEnjyXV34yYmPq3FDpLAiJlM0Hiv0FyNBfvPD6enM
Kevin Power (Jan 28 2018 at 18:10):
For those that were in the post meeting discussion where we discussed Complex, here are some examples of Compound Het variants in ClinVar: https://www.ncbi.nlm.nih.gov/clinvar/?term=%22Compound+heterozygote%22%5BComplexity%5D
Kevin Power (Jan 28 2018 at 20:54):
All Connectathoners - Please send me what you want in our outcomes for the Genomics track. Here is what I have so far (pretty sparse). http://wiki.hl7.org/index.php?title=Record_Connectathon_17_Outcomes_Here#Genomics
Last updated: Apr 12 2022 at 19:14 UTC
