ArticleHuman mutation2015
GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge.
Article in Human mutation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
42 citing papers in PubMed, 73 citations in OpenAlex.
- Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP).Prenatal diagnosis · 2026Article
- Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects.American journal of medical genetics. Part A · 2026Article
- Development of self-phenotyping tools to empower patients and improve diagnostics.EBioMedicine · 2025Article
- Automated extraction of functional biomarkers of verbal and ambulatory ability from multi-institutional clinical notes using large language models.Journal of neurodevelopmental disorders · 2025Article
- Standardization of Genomic Nomenclature across a Diverse Ecosystem of Stakeholders: Evolution and Challenges.Clinical chemistry · 2025Review
- The Brain Gene Registry: a data snapshot.Journal of neurodevelopmental disorders · 2024Article
- Review
- Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.Journal of medical genetics · 2024Article
- Clinical variants paired with phenotype: A rich resource for brain gene curation.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking.Human mutation · 2022Article
- A clinician's guide to omics resources in dermatology.Clinical and experimental dermatology · 2022Review
- GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation.BMC medical genomics · 2022Article
- Legal and Ethical Considerations for the Design and Use of Web Portals for Researchers, Clinicians, and Patients: Scoping Literature Review.Journal of medical Internet research · 2021Article
- Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Citizen engagement initiatives in precision health in the European Union member states: a scoping review.BMJ open · 2021Article
- Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network.Orphanet journal of rare diseases · 2021Article
- Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.Journal of medical Internet research · 2021Article
- REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis.Molecular genetics & genomic medicine · 2020Article
- Diagnosis of Rare Diseases: a scoping review of clinical decision support systems.Orphanet journal of rare diseases · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
As the utility of genetic and genomic testing in healthcare grows, there is need for a high-quality genomic knowledge base to improve the clinical interpretation of genomic variants. Active patient engagement can enhance communication between clinicians, patients, and researchers, contributing to knowledge building. It also encourages data sharing by patients and increases the data available for clinicians to incorporate into individualized patient care, clinical laboratories to utilize in test interpretation, and investigators to use for research. GenomeConnect is a patient portal supported by the Clinical Genome Resource (ClinGen), providing an opportunity for patients to add to the knowledge base by securely sharing their health history and genetic test results. Data can be matched with queries from clinicians, laboratory personnel, and researchers to better interpret the results of genetic testing and build a foundation to support genomic medicine. Participation is online, allowing patients to contribute regardless of location. GenomeConnect supports longitudinal, detailed clinical phenotyping and robust "matching" among research and clinical communities. Phenotype data are gathered using online health questionnaires; genotype data are obtained from genetic test reports uploaded by participants and curated by staff. GenomeConnect empowers patients to actively participate in the improvement of genomic test interpretation and clinical utility.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.