ArticleBMC medical genomics2018
Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine.
Article in BMC medical genomics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Early-Phase Clinical Trials of Bio-Artificial Organ Technology: A Systematic Review of Ethical Issues.Transplant international : official journal of the European Society for Organ Transplantation · 2022Pooled it
- Bridging genomics' greatest challenge: The diversity gap.Cell genomics · 2025Review
- A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants.Science advances · 2023Article
- Implementation of individualised polygenic risk score analysis: a test case of a family of four.BMC medical genomics · 2022Article
- Simulating the Genetics Clinic of the Future - whether undergoing whole-genome sequencing shapes professional attitudes.Journal of community genetics · 2022Article
- Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing via motif disruption.Nucleic acids research · 2021Article
- Citizen engagement initiatives in precision health in the European Union member states: a scoping review.BMJ open · 2021Article
- Whole Genome Interpretation for a Family of Five.Frontiers in genetics · 2021Article
- Editorial: Personal Genomes: Accessing, Sharing, and Interpretation.Frontiers in genetics · 2021Article
- Public awareness of and attitudes towards research biobanks in Latvia.BMC medical ethics · 2020Article
- Article
- Research data management in health and biomedical citizen science: practices and prospects.JAMIA open · 2020Article
- GenomeChronicler: The Personal Genome Project UK Genomic Report Generator Pipeline.Frontiers in genetics · 2020Article
- A Distributed Whole Genome Sequencing Benchmark Study.Frontiers in genetics · 2020Article
- DNA methylation aging clocks: challenges and recommendations.Genome biology · 2019Review
- The Personal Genome Project-UK, an open access resource of human multi-omics data.Scientific data · 2019Article
- Mind the gap: resources required to receive, process and interpret research-returned whole genome data.Human genetics · 2019Review
- Points-to-consider on the return of results in epigenetic research.Genome medicine · 2019Review
- Article
- Getting up close and personal with UK genomics and beyond.Genome medicine · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 2 institutions in 2 countries.
Funding
Abstract
backgroundMolecular analyses such as whole-genome sequencing have become routine and are expected to be transformational for future healthcare and lifestyle decisions. Population-wide implementation of such analyses is, however, not without challenges, and multiple studies are ongoing to identify what these are and explore how they can be addressed.
methodsDefined as a research project, the Personal Genome Project UK (PGP-UK) is part of the global PGP network and focuses on open data sharing and citizen science to advance and accelerate personalized genomics and medicine.
resultsHere we report our findings on using an open consent recruitment protocol, active participant involvement, open access release of personal genome, methylome and transcriptome data and associated analyses, including 47 new variants predicted to affect gene function and innovative reports based on the analysis of genetic and epigenetic variants. For this pilot study, we recruited 10 participants willing to actively engage as citizen scientists with the project. In addition, we introduce Genome Donation as a novel mechanism for openly sharing previously restricted data and discuss the first three donations received. Lastly, we present GenoME, a free, open-source educational app suitable for the lay public to allow exploration of personal genomes.
conclusionsOur findings demonstrate that citizen science-based approaches like PGP-UK have an important role to play in the public awareness, acceptance and implementation of genomics and personalized medicine.
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.