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
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: id: BH-CMG, 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), Cornelia de Lange syndrome (Mondo Disease Ontology#MONDO:0016033)
| Type | Label | Citation | Url |
| derived-from | DbGaP | phs000711 | |
| documentation | 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. | 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"