ArticleFrontiers in genetics2020
Impute.me: An Open-Source, Non-profit Tool for Using Data From Direct-to-Consumer Genetic Testing to Calculate and Interpret Polygenic Risk Scores.
Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 2 of them syntheses that pooled it.
What it found
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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
43 citing papers in PubMed, 2 syntheses or guidelines pooled it, 65 citations in OpenAlex.
- Systematic Review: How the Attention-Deficit/Hyperactivity Disorder Polygenic Risk Score Adds to Our Understanding of ADHD and Associated Traits.Journal of the American Academy of Child and Adolescent Psychiatry · 2021Pooled it
- A systematic review of gene-by-intervention studies of alcohol and other substance use.Development and psychopathology · 2021Pooled it
- Genetically influenced externalizing and internalizing risk pathways as novel prevention targets.Psychology of addictive behaviors : journal of the Society of Psychologists in Addictive Behaviors · 2022Trial
- Effects of bogus genetic feedback on subjective and physiological responses to acute stress.Comprehensive psychoneuroendocrinology · 2026Article
- How Has the Rise of Direct-To-Consumer Genetic Testing Impacted Genetic Counselling Practice? A Scoping Review.Clinical genetics · 2026Article
- Associations Between a Genetic Liability Toward Externalizing and Behavioral Outcomes Spanning Toddlerhood Through Early Adulthood in Five Developmental Cohorts.Journal of the American Academy of Child and Adolescent Psychiatry · 2026Article
- The future of polygenic risk scores in direct-to-consumer genomics.Nature genetics · 2025Article
- Psychological and behavioural considerations for integrating polygenic risk scores for disease into clinical practice.Nature human behaviour · 2025Review
- Advancements and limitations in polygenic risk score methods for genomic prediction: a scoping review.Human genetics · 2024Article
- The Polygenic Score Catalog: new functionality and tools to enable FAIR research.medRxiv : the preprint server for health sciences · 2024Article
- A perspective on genetic and polygenic risk scores-advances and limitations and overview of associated tools.Briefings in bioinformatics · 2024Review
- Returning Genetic Information About Risk for Alcohol Use Disorder to Adolescents: Findings of a Preliminary Qualitative Study of Precision Prevention.AJPM focus · 2024Article
- Novel Functional Genomics Approaches Bridging Neuroscience and Psychiatry.Biological psychiatry global open science · 2023Review
- A qualitative study exploring the consumer experience of receiving self-initiated polygenic risk scores from a third-party website.European journal of human genetics : EJHG · 2023Article
- Revisiting informed consent in forensic genomics in light of current technologies and the times.International journal of legal medicine · 2023Article
- Returning complex genetic risk information to promote better health-related behaviors: a commentary of the literature and suggested next steps.Translational behavioral medicine · 2023Article
- Australian parental perceptions of genomic newborn screening for non-communicable diseases.Frontiers in genetics · 2023Article
- PRScalc, a privacy-preserving calculation of raw polygenic risk scores from direct-to-consumer genomics data.Bioinformatics advances · 2023Article
- The Promise and Peril of Genetics.Current directions in psychological science · 2022Article
- A comprehensive evaluation of polygenic score and genotype imputation performances of human SNP arrays in diverse populations.Scientific reports · 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
6 authors at 3 institutions in 3 countries.
Funding
Abstract
To date, interpretation of genomic information has focused on single variants conferring disease risk, but most disorders of major public concern have a polygenic architecture. Polygenic risk scores (PRSs) give a single measure of disease liability by summarizing disease risk across hundreds of thousands of genetic variants. They can be calculated in any genome-wide genotype data-source, using a prediction model based on genome-wide summary statistics from external studies. As genome-wide association studies increase in power, the predictive ability for disease risk will also increase. Although PRSs are unlikely ever to be fully diagnostic, they may give valuable medical information for risk stratification, prognosis, or treatment response prediction. Public engagement is therefore becoming important on the potential use and acceptability of PRSs. However, the current public perception of genetics is that it provides "yes/no" answers about the presence/absence of a condition, or the potential for developing a condition, which in not the case for common, complex disorders with polygenic architecture. Meanwhile, unregulated third-party applications are being developed to satisfy consumer demand for information on the impact of lower-risk variants on common diseases that are highly polygenic. Often, applications report results from single-nucleotide polymorphisms (SNPs) and disregard effect size, which is highly inappropriate for common, complex disorders where everybody carries risk variants. Tools are therefore needed to communicate our understanding of genetic vulnerability as a continuous trait, where a genetic liability confers risk for disease. Impute.me is one such tool, whose focus is on education and information on common, complex disorders with polygenetic architecture. Its research-focused open-source website allows users to upload consumer genetics data to obtain PRSs, with results reported on a population-level normal distribution. Diseases can only be browsed by
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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 Socratic graph.