Evidence map›Paper›PMID 28942963›Full record

ArticleAmerican journal of human genetics2017

Prospects of Fine-Mapping Trait-Associated Genomic Regions by Using Summary Statistics from Genome-wide Association Studies.

Christian Benner, Aki S Havulinna, Marjo-Riitta Järvelin, Veikko Salomaa, Samuli Ripatti, Matti Pirinen

Abstract read
In one paragraph

Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 172 papers, 18 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
172citing papers in PubMed, 18 pooled it
–field-weighted citation impact
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

172 citing papers in PubMed, 18 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Pooled it
  6. Pooled it
  7. Pooled it
  8. Pooled it
  9. Pooled it
  10. Pooled it
  11. Pooled it
  12. Pooled it
  13. Pooled it
  14. Pooled it
  15. Pooled it
  16. Pooled it
  17. Pooled it
  18. Pooled it
  19. Article
  20. CuGen: A GPU-accelerated framework for large-scale genomics.medRxiv : the preprint server for health sciences · 2026
    Article

112 more citing papers are in PubMed but not listed here.

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

6 authors.

Christian BennerInstitute for Molecular Medicine Finland, University of Helsinki, 00014 Helsinki, Finland; Department of Public Health, University of Helsinki, 00014 Helsinki, Finland. Electronic address: christian.benner@helsinki.fi.
Aki S HavulinnaInstitute for Molecular Medicine Finland, University of Helsinki, 00014 Helsinki, Finland; National Institute for Health and Welfare, 00271 Helsinki, Finland.
Marjo-Riitta JärvelinCenter for Life-Course Health Research and Northern Finland Cohort Center, Biocenter Oulu, University of Oulu, 90014 Oulu, Finland; Faculty of Medicine, University of Oulu, 90014 Oulu, Finland; Unit of Primary Care, Oulu University Hospital, 90220 Oulu, Finland; Department of Epidemiology and Biostatistics, School of Public Health, Faculty of Medicine, Imperial College London, W2 1PG, UK.
Veikko SalomaaNational Institute for Health and Welfare, 00271 Helsinki, Finland.
Samuli RipattiInstitute for Molecular Medicine Finland, University of Helsinki, 00014 Helsinki, Finland; Department of Public Health, University of Helsinki, 00014 Helsinki, Finland; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, Cambridge, UK.
Matti PirinenInstitute for Molecular Medicine Finland, University of Helsinki, 00014 Helsinki, Finland; Department of Public Health, University of Helsinki, 00014 Helsinki, Finland; Helsinki Institute for Information Technology and Department of Mathematics and Statistics, University of Helsinki, 00014 Helsinki, Finland. Electronic address: matti.pirinen@helsinki.fi.

Funding

Medical Research Council MC_QA137853
6 · The paper itself

Abstract

During the past few years, various novel statistical methods have been developed for fine-mapping with the use of summary statistics from genome-wide association studies (GWASs). Although these approaches require information about the linkage disequilibrium (LD) between variants, there has not been a comprehensive evaluation of how estimation of the LD structure from reference genotype panels performs in comparison with that from the original individual-level GWAS data. Using population genotype data from Finland and the UK Biobank, we show here that a reference panel of 1,000 individuals from the target population is adequate for a GWAS cohort of up to 10,000 individuals, whereas smaller panels, such as those from the 1000 Genomes Project, should be avoided. We also show, both theoretically and empirically, that the size of the reference panel needs to scale with the GWAS sample size; this has important consequences for the application of these methods in ongoing GWAS meta-analyses and large biobank studies. We conclude by providing software tools and by recommending practices for sharing LD information to more efficiently exploit summary statistics in genetics research.

Indexed as

Linkage DisequilibriumQuantitative Trait LociSoftwareAdultAgedBiostatisticsChromosome MappingCohort StudiesFemaleFinlandGenome, HumanGenome-Wide Association StudyGenotypeHumansMaleMiddle Aged

Identifiers

PMID28942963
PMCPMC5630179

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.