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Lloyd McKenzie 10:28 AM
Is booked for Sunday at 10am in the Magazine room
HI all - I will be handling the track lead duties for the Genomics track. For anyone who is doing work, if you don't mind sending me some feedback here, I would greatly appreciate it. I will also plan to chat with everyone 1-1 at some point, but having it here in chat would be valuable as well. Thanks.
If everyone can add their names/servers/clients/use cases here, it would be a huge help: https://docs.google.com/spreadsheets/d/11QbX8iB49s_-YMP6GmEej41uT58ir4f6W2EvMEe4cUg/edit#gid=1775022935
Here is the template to complete for the Track outcomes: If anyone has feedback on these topics, please contact me:
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
Names and Company Names
Please limit to one paragraph summary
1-2 screenshots if relevant and interesting and/or links to further information about implementations / achievements
What challenged the group?
What questions did you come away with?
1 paragraph: now what?
Here's the link to the "genetics-unified" google doc, which now includes the new diagrams: https://docs.google.com/document/d/1juWEnjyXV34yYmPq3FDpLAiJlM0Hiv0FyNBfvPD6enM
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
Last updated: Mar 23 2020 at 00:02 UTC