Evidence map›Paper›PMID 36459976›Full record

ReviewAmerican journal of human genetics2022

Addressing the challenges of polygenic scores in human genetic research.

John Novembre, Catherine Stein, Samira Asgari, Claudia Gonzaga-Jauregui, Andrew Landstrom, Amy Lemke, Jun Li, Chloe Mighton, Matthew Taylor, Sarah Tishkoff

Open access · greenAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed, 1 pooled it
7.9field-weighted citation impact, top 2% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

31 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Genetic basis of Asian diabetes.Journal of diabetes investigation · 2026
    Review
  4. Article
  5. Article
  6. Article
  7. Review
  8. Article
  9. Improving polygenic prediction from whole-genome sequencing data by leveraging predicted epigenomic features.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  10. Article
  11. Review
  12. Article
  13. Review
  14. Review
  15. Article
  16. Article
  17. Genetic and Genomic Approaches to the Study of Drug-Induced Liver Injury.Liver international : official journal of the International Association for the Study of the Liver · 2025
    Review
  18. Article
  19. Review
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 9 institutions in 3 countries.

John NovembreProfessional Practice and Social Implications Committee Polygenic Scores Guidance Writing Group, American Society of Human Genetics, Rockville MD, USA; Department of Human Genetics, University of Chicago, Chicago, IL, USA; Department of Ecology and Evolution, University of Chicago, Chicago, IL, USA. Electronic address: jnovembre@uchicago.edu.
Catherine SteinProfessional Practice and Social Implications Committee Polygenic Scores Guidance Writing Group, American Society of Human Genetics, Rockville MD, USA; Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA. Electronic address: cmj7@case.edu.
Samira AsgariProfessional Practice and Social Implications Committee Polygenic Scores Guidance Writing Group, American Society of Human Genetics, Rockville MD, USA; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Claudia Gonzaga-JaureguiProfessional Practice and Social Implications Committee Polygenic Scores Guidance Writing Group, American Society of Human Genetics, Rockville MD, USA; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Querétaro, México.
Andrew LandstromProfessional Practice and Social Implications Committee Polygenic Scores Guidance Writing Group, American Society of Human Genetics, Rockville MD, USA; Department of Pediatrics, Division of Cardiology, Duke University School of Medicine, Durham, NC, USA.
Amy LemkeProfessional Practice and Social Implications Committee Polygenic Scores Guidance Writing Group, American Society of Human Genetics, Rockville MD, USA; Norton Children's Research Institute, affiliated with the University of Louisville School of Medicine, Louisville, KY, USA.
Jun LiProfessional Practice and Social Implications Committee Polygenic Scores Guidance Writing Group, American Society of Human Genetics, Rockville MD, USA; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
Chloe MightonProfessional Practice and Social Implications Committee Polygenic Scores Guidance Writing Group, American Society of Human Genetics, Rockville MD, USA; Genomics Health Services Research Program, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada; Institute of Health Policy, Management and Evaluation, Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada.
Matthew TaylorProfessional Practice and Social Implications Committee Polygenic Scores Guidance Writing Group, American Society of Human Genetics, Rockville MD, USA; Adult Medical Genetics Program, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Sarah TishkoffProfessional Practice and Social Implications Committee Polygenic Scores Guidance Writing Group, American Society of Human Genetics, Rockville MD, USA; Department of Genetics, Center for Global Genomics and Health Equity, University of Pennsylvania, Philadelphia, PA, USA; Department of Biology, Center for Global Genomics and Health Equity, University of Pennsylvania, Philadelphia, PA, USA.
American Society of Human Genetics · USCase Western Reserve University · USDuke University · USGenomic Health (United States) · USSt. Michael's Hospital · CAUniversity of Chicago · USUniversity of Colorado Anschutz Medical Campus · USUniversity of Louisville · USUniversity of Michigan · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The genotyping of millions of human samples has made it possible to evaluate variants across the human genome for their possible association with risks for numerous diseases and other traits by using genome-wide association studies (GWASs). The associations between phenotype and genotype found in GWASs make possible the construction of polygenic scores (PGSs), which aim to predict a trait or disease outcome in an individual on the basis of their genotype (in the disease case, the term polygenic risk score [PRS] is often used). PGSs have shown promise for studying the biology of complex traits and as a tool for evaluating individual disease risks in clinical settings. Although the quantity and quality of data to compute PGSs are increasing, challenges remain in the technical aspects of developing PGSs and in the ethical and social issues that might arise from their use. This ASHG Guidance emphasizes three major themes for researchers working with or interested in the application of PGSs in their own research: (1) developing diverse research cohorts; (2) fostering robustness in the development, application, and interpretation of PGSs; and (3) improving the communication of PGS results and their implications to broad audiences.

Indexed as

Genome-Wide Association StudyMultifactorial InheritanceGenetic ResearchGenotypeHumansPhenotype

Identifiers

PMID36459976
PMCPMC9808501
OpenAlexW4310780293

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.