Stream: genomics
Topic: Is there any extensions definition about Sequence ?
yiwang (Aug 31 2016 at 16:01):
@Gaston Fiore In 2016 STU3 ballot version, it didn't. Is there any possible extensions not listed on this website?
John Moehrke (Aug 31 2016 at 16:27):
There is a Sequence resource. http://hl7-fhir.github.io/sequence.html
yiwang (Sep 01 2016 at 00:53):
thx, but what I concerned is the extensions, the website did not show any sign of existance of extensions in the tab 'profiles and extensions' , I want to make sure whether there is any extensions to the sequence
Kevin Power (Sep 01 2016 at 15:08):
@yiwang To date, there are no profiles or extensions on Sequence. There are numerous other resources that do have genomic related profiles. For the whole picture, you can visit the draft implementation guidance here: https://docs.google.com/document/d/1kUmN4yIRhiwOz_sHic4dU2J9_0DKBf6eaVDAOd3dqhY/edit
yiwang (Sep 01 2016 at 15:10):
thx, I'll check this out.
yiwang (Sep 01 2016 at 15:18):
@Kevin Power Do u know where is the STU3 version of IG draft implementation? : )
Kevin Power (Sep 01 2016 at 15:27):
I believe the version I linked matches STU3. If not, it doesn't differ much. I would defer to @Gil Alterovitz for confirmation.
yiwang (Sep 01 2016 at 15:32):
@Kevin Power
http://hl7.org/fhir/2016Sep/diagnosticreport-profiles.html shows some new profiles that not mentioned in the IG. Also , diagnosticorder is now changed to diagnosticRequest, etc. so that's way I prefer to say it is not the latest version.
Kevin Power (Sep 01 2016 at 16:36):
I think some of those changes are where the IG are behind STU3. Again, will defer to @Gil Alterovitz for the final answer.
Gil Alterovitz (Sep 07 2016 at 14:22):
The guide did take a couple weeks to compile from text to final published form. From Yi's comment, it seems his issues relate to things outside CG domain. There were a number of changes- like diagnosticOrder to diagnosticRequest that were done outside our group (mostly changes in name) near STU3 deadline. Some of the diagnostic report profiles are not under CG purview- only the CG-managed profiles ones are described in the guide.
Kevin Power (Sep 07 2016 at 17:57):
I will add the most updated Implementation Guidance document can be found at: http://hl7.org/fhir/2016Sep/genomics.html
Dylan Mordaunt (Sep 09 2016 at 21:25):
Hi all, just thought I'd introduce myself, as I'm new to HL7. I'm a paediatrician and clinical geneticist from New Zealand, and currently work as the clinical lead of research at Orion Health. Not sure how I can be of use yet, but please let me know. Cheers, Dylan.
Kevin Power (Sep 12 2016 at 13:26):
Hello @Dylan Mordaunt - I would point you at two resources. For an overall look, you can join the Clinical Genomics work group (http://www.hl7.org/Special/committees/clingenomics/index.cfm) though I'm afraid the time zone difference will make you joining the calls a challenge. However, you can join the listserv to get updates, meeting minutes, etc.
Kevin Power (Sep 12 2016 at 13:27):
Secondly, you can review the latest Genomics Implementer Guidance document (http://hl7.org/fhir/2016Sep/genomics.html) for the current work on genomics in FHIR. We would welcome any feedback. Thanks and welcome ...
Michael Osborne (Dec 06 2016 at 20:00):
Thanks for the link to the Clinical Genomics HL7 documentation. I tried to GET from https://www.googleapis.com/genomics/v1beta2 which is referenced in 10.9.6 Repositories , however I get a "Not Found" Error in Postman.
Kevin Power (Dec 14 2016 at 18:49):
@Michael Osborne - Sorry for the late response, but to see the latest on the Sequence resource, you can review http://build.fhir.org/sequence.html
Kevin Power (Dec 14 2016 at 18:52):
Sorry Michael, I just realized I mis-read your comment. It looks like that that API listed in the example is wrong. You can log an issue for that by clicking the "Propose A Change" link at the bottom of all the FHIR documentation pages. But since it is an example, there is probably not a guarantee that it will be a valid URL.
Last updated: Apr 12 2022 at 19:14 UTC
