NCPI FHIR Implementation Guide
0.2.0 - ci-build

NCPI FHIR Implementation Guide - Local Development build (v0.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. 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

Research Study Design: Mendelian (dbGaP Study Design#Mendelian; NCPI Study Type#Mixed "Mixed")

identifier: http://mendelian.org/fhir/BH-CMG, https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=/phs000711

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

status: completed

category: Study Cohort (NCPI FHIR Codes#StudyCohort)

focus: cerebral malformation (Mondo Disease Ontology#MONDO:0016054), Heterotaxy (Human Phenotype Ontology#HP:0030853; unknown#D059446 "Heterotaxy Syndrome"), Cornelia de Lange syndrome (Mondo Disease Ontology#MONDO:0016033; unknown#D003635 "De Lange Syndrome")

relatedArtifact

type: derived-from

label: DbGaP

display: phs000711

url: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000711

relatedArtifact

type: documentation

label: Citation

citation: Gonzaga-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.

document

relatedArtifact

type: documentation

label: Website

document

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"