ArticleHuman mutation2022
Harmonizing variant classification for return of results in the All of Us Research Program.
Article in Human mutation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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
14 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genomic Analysis Identifies Risk Factors in Restless Legs Syndrome.Annals of neurology · 2024Pooled it
- Recommendations for return of secondary genomic findings in observational cohort studies.Nature genetics · 2026Review
- Reciprocity in research: Participant views on return of results in the WATCH-PD qualitative study.Journal of Parkinson's disease · 2026Article
- Unraveling the genetic architecture of non-Huntington chorea: a biobank-scale study of rare variants and repeat expansions.NPJ genomic medicine · 2026Article
- Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.Nature communications · 2025Article
- Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.Frontiers in molecular biosciences · 2025Article
- Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.Genome medicine · 2024Article
- Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.medRxiv : the preprint server for health sciences · 2024Article
- Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank.Journal of medical genetics · 2024Article
- SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.Database : the journal of biological databases and curation · 2024Article
- Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Genomic analysis identifies risk factors in restless legs syndrome.medRxiv : the preprint server for health sciences · 2023Article
- TheAnnual review of biomedical data science · 2023Review
- Harmonizing variant classification for return of results in the All of Us Research Program.Human mutation · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors.
Funding
Abstract
The All of Us Research Program (AoURP) is a historic effort to accelerate research and improve healthcare by generating and collating data from one million people in the United States. Participants will have the option to receive results from their genome analysis, including actionable findings in 59 gene-disorder pairs for which disorder-associated variants are recommended for return by the American College of Medical Genetics and Genomics. To ensure consistent reporting across the AoURP, in a prelaunch study the four participating clinical laboratories shared all variant classifications in the 59 genes of interest from their internal databases. Of the 11,813 unique variants classified by at least two of the four laboratories, classifications were concordant with regard to reportability for 99.1% (11,711), with only 0.9% (102) having reportability differences. Through variant reassessment, data sharing, and discussion of rationale, participating laboratories resolved all 102 reportable differences. These approaches will be maintained during routine AoU reporting to ensure continuous classification harmonization and consistent reporting within AoURP.
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.