NCPI FHIR Implementation Guide
0.2.0 - ci-build

NCPI FHIR Implementation Guide - Local Development build (v0.2.0). See the Directory of published versions

Example ResearchStudy: Baylor Hopkins Center for Mendelian Genomics (BH CMG)

Generated Narrative: ResearchStudy

Resource ResearchStudy "cmg-research-study-bhcmg"

Profile: NCPI Research Study

identifier: id: BH-CMG, id: phs000711

title: Baylor Hopkins Center for Mendelian Genomics (BH CMG)

status: completed

primaryPurposeType: Mixed (NCPI Study Type#Mixed)

category: Study Cohort (NCPI FHIR Codes#StudyCohort)

focus: cerebral malformation (Mondo Disease Ontology#MONDO:0016054), Heterotaxy (Human Phenotype Ontology#HP:0030853), Cornelia de Lange syndrome (Mondo Disease Ontology#MONDO:0016033)

RelatedArtifacts

-TypeLabelCitationUrl
*derived-fromDbGaP phs000711
*documentationCitationGonzaga-Jauregui C, Lupski JR, Gibbs RA. Human genome sequencing in health and disease. Annu Rev Med. 2012;63:35-61. doi: 10.1146/annurev-med-051010-162644. PMID: 22248320; PMCID: PMC3656720.https://pubmed.ncbi.nlm.nih.gov/22248320/

description: The Centers for Mendelian Genomics project uses next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian conditions. By discovering genes that cause Mendelian conditions, we will expand our understanding of their biology to facilitate diagnosis and new treatments.

enrollment: Group/cmg-research-study-bhcmg-group "BH-CMG Study Participants"

sponsor: Organization/cmg-research-consortium "Center for Mendelian Genomics Consortium"