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External References

Type Reference Content
web airtable.com Research Web Link : https://airtable.com/apperYvVD82ti3021/pagdArwI0TxJQpiVW/form
web kidsfirstdrc.org Research Web Link : https://kidsfirstdrc.org/portal/portal-features/#dataAccess
web cbtn.org https://cbtn.org/
web cbtn.org https://cbtn.org/publications
web snomed.info 428263003
web snomed.info 415684004
web snomed.info 410515003
web snomed.info 261665006
web www.ncpi-acc.org IG © 2023+ NCPI FHIR Working Group . Package ncpi-fhir-implementation-guide-v2#0.2.0 based on FHIR 4.0.1 . Generated 2025-12-03
Links: Table of Contents | QA Report
web github.com FHIR 101 is a tutorial inside a Jupyter notebook that was put together by some folks at the Kids First Resource Center.
web fhir-drills.github.io FHIR Drills
web ga4gh.github.io This uses the standard Patient Record extension for compatibility with the GA4GH PedigreeRelationship profile
web gatk.broadinstitute.org This provides an unambiguous representation of the genetic relationship that is easily convertable to and from PED files
web zzz.bwh.harvard.edu We chose the direction of the relationship to match PED files ( plink Harvard Medical School definition , Broad Institute definition ), which go from the individual to the mother and father.
web gatk.broadinstitute.org We chose the direction of the relationship to match PED files ( plink Harvard Medical School definition , Broad Institute definition ), which go from the individual to the mother and father.
web gatk.broadinstitute.org Family Relationships describe the relationship between two Participants. The core use case is to present biological parentage of a participant to support family / pedigree analyses. In this spirit, platforms should seek to provide minimally the information in a PED file :
web ga4gh.github.io GA4GH Family Relationships are defined in the GA4GH Family Relationships specification.
web ga4gh.github.io This FamilyRelationship resource is almost compatible with the GA4GH Family Relationships specification. However, we cannot include it in the profile because the GA4GH specification restricts relationships to the codes defined in that standard . Unfortunately, that set of codes does not meet our use cases or interoperability requirements. If the binding had been extensible, we could have inherited from the GA4GH Family Relationships profile and encouraged the use of better codes. However, software written for that profile might be able to read our FamilyRelationship resources as long as it does not rely on the "required" binding.
web edamontology.org format and relatedFile.type should use EDAM terminology (i.e., codes) when available. Other file type code systems are allowed if a suitable EDAM code does not exist.
web snomed.info    428263003
web snomed.info    415684004
web snomed.info    410515003
web snomed.info    261665006
web github.com calkinsh
web github.com RobertJCarroll
web github.com JamedFV
web github.com brendagutman
web github.com ShahimEssaid
web github.com allisonheath
web github.com a-l-holmes
web github.com fiendish
web github.com liberaliscomputing
web github.com nicholasvk
web github.com znatty22
web github.com torstees
web github.com bwalsh
web github.com aw3334
web fshschool.org FSH School - This is a great resource for both reference and introductory material
web fshschool.org Sushi Tutoria - Walkthrough guide for creating a sushi project, creating a handful of profiles using sushi and building a formal IG website on your local system.
web en.wikipedia.org Variant of Camel case where the first letter of the string is always upper case
web fshschool.org Filenames of all kinds should contain no whitespace. There are rules determining how we must name content that gets merged into the various artifact pages which is described over at fshschool.org toward the bottom of that page. In order to clearly differentiate between these artifact components and the text narrative pages, those stand-alone narrative pages must exist in files named using snake case .
web en.wikipedia.org Filenames of all kinds should contain no whitespace. There are rules determining how we must name content that gets merged into the various artifact pages which is described over at fshschool.org toward the bottom of that page. In order to clearly differentiate between these artifact components and the text narrative pages, those stand-alone narrative pages must exist in files named using snake case .
web en.wikipedia.org Sushi will parse the filename and apply title case to construct a meaningful starting header and title. For titles where that doesn't work, such as fhir_basics which would incorrectly result in a title, Fhir Basics , contributors should add an appropriate entry to the sushi-config pages heading as can be seen in this example configuration . By assigning the title property for a given page, the contributor can provide any type of case as is appropriate.
web fshschool.org Sushi will parse the filename and apply title case to construct a meaningful starting header and title. For titles where that doesn't work, such as fhir_basics which would incorrectly result in a title, Fhir Basics , contributors should add an appropriate entry to the sushi-config pages heading as can be seen in this example configuration . By assigning the title property for a given page, the contributor can provide any type of case as is appropriate.
web github.com The FSH code for the CBTN example can be found in the NCPI FHIR IG 2 repository at ncpi-fhir-ig-2/input/fsh/examples or with this direct link .
web github.com The FSH code for the GREGoR example can be found in the NCPI FHIR IG 2 repository at ncpi-fhir-ig-2/input/fsh/examples/GREGoR_example.fsh or with this direct link .
web ga4gh.github.io We are aware of the work done by GA4GH to model family health history and family relationships via the Pedigree IG , including their development of the KIN ontology . We are engaging to ensure compatibility and meeting needs our family, family relationship, and family history modeling with the efforts of the Pedigree IG while still supporting the needs of the NCPI partner groups.
web github.com We are aware of the work done by GA4GH to model family health history and family relationships via the Pedigree IG , including their development of the KIN ontology . We are engaging to ensure compatibility and meeting needs our family, family relationship, and family history modeling with the efforts of the Pedigree IG while still supporting the needs of the NCPI partner groups.

Internal Images

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