ArticleHuman mutation2018
ClinGen's GenomeConnect registry enables patient-centered data sharing.
Article in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 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
27 citing papers in PubMed.
- Homocystinuria symptomatology collected through an international patient-report data program as a source for natural history data.Molecular genetics and metabolism reports · 2026Article
- Gene variants associated with pediatric-onset erythromelalgia: Mendelian and rare-variant association analyses.Pain reports · 2026Article
- 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
- Potential mitochondria-associated pathogenic genes in sepsis: a multi-omics Mendelian randomization study.Frontiers in immunology · 2026Article
- Development of self-phenotyping tools to empower patients and improve diagnostics.EBioMedicine · 2025Article
- Developing Requirements for a Standardized System to Return Individual Research Results Back to Study Participants: Narrative Review.Interactive journal of medical research · 2025Review
- Automated extraction of functional biomarkers of verbal and ambulatory ability from multi-institutional clinical notes using large language models.Journal of neurodevelopmental disorders · 2025Article
- Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies.Kidney international reports · 2025Review
- ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.Molecular genetics and metabolism · 2024Article
- The Brain Gene Registry: a data snapshot.Journal of neurodevelopmental disorders · 2024Article
- Improving prenatal diagnosis through standards and aggregation.Prenatal diagnosis · 2024Review
- Review
- 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
- Multidisciplinary molecular consultation increases the diagnosis of pediatric epileptic encephalopathy and neurodevelopmental disorders.Molecular genetics & genomic medicine · 2023Article
- Protein domains provide a new layer of information for classifying human variations in rare diseases.Frontiers in bioinformatics · 2023Article
- Non-Invasive Biomarkers for Early Lung Cancer Detection.Cancers · 2022Review
- 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
- Establishing the Medical Actionability of Genomic Variants.Annual review of genomics and human genetics · 2022Review
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors.
Funding
Abstract
GenomeConnect, the NIH-funded Clinical Genome Resource (ClinGen) patient registry, engages patients in data sharing to support the goal of creating a genomic knowledge base to inform clinical care and research. Participant self-reported health information and genomic variants from genetic testing reports are curated and shared with public databases, such as ClinVar. There are four primary benefits of GenomeConnect: (1) sharing novel genomic data-47.9% of variants were new to ClinVar, highlighting patients as a genomic data source; (2) contributing additional phenotypic information-of the 52.1% of variants already in ClinVar, GenomeConnect provided enhanced case-level data; (3) providing a way for patients to receive variant classification updates if the reporting laboratory submits to ClinVar-97.3% of responding participants opted to receive such information and 13 updates have been identified; and (4) supporting connections with others, including other participants, clinicians, and researchers to enable the exchange of information and support-60.4% of participants have opted to partake in participant matching. Moving forward, ClinGen plans to increase patient-centric data sharing by partnering with other existing patient groups. By engaging patients, more information is contributed to the public knowledge base, benefiting both patients and the genomics community.
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.