Evidence map›Paper›PMID 39134668›Full record

ArticleNature genetics2024

A Genomics England haplotype reference panel and imputation of UK Biobank.

Sinan Shi, Simone Rubinacci, Sile Hu, Loukas Moutsianas, Alex Stuckey, Anna C Need, Pier Francesco Palamara, Mark Caulfield, Jonathan Marchini, Simon Myers

Abstract read
In one paragraph

Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed, 2 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

29 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
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  20. The genetic basis of human height.Nature reviews. Genetics · 2025
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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.

Sinan ShiDepartment of Statistics, University of Oxford, Oxford, UK. sinan.shi@stats.ox.ac.uk.ORCID http://orcid.org/0000-0001-6935-0429
Simone RubinacciHarvard Medical School, Harvard University, Boston, MA, USA.ORCID http://orcid.org/0000-0002-7725-4813
Sile HuNovo Nordisk Research Centre, Oxford, UK.ORCID http://orcid.org/0000-0002-8437-7387
Loukas MoutsianasGenomics England, London, UK.ORCID http://orcid.org/0000-0001-5453-345X
Alex StuckeyGenomics England, London, UK.
Anna C NeedGenomics England, London, UK.
Pier Francesco PalamaraDepartment of Statistics, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-7999-1972
Mark CaulfieldGenomics England, London, UK.ORCID http://orcid.org/0000-0001-9295-3594
Jonathan MarchiniRegeneron Genetic Center, Tarrytown, NY, USA.
Simon MyersDepartment of Statistics, University of Oxford, Oxford, UK. myers@stats.ox.ac.uk.ORCID http://orcid.org/0000-0002-2585-9626

Funding

Wellcome Trust 212284/Z/18/ZWellcome Trust (Wellcome) 200186/Z/15/ZWellcome Trust (Wellcome) 200186/Z/18/Z
6 · The paper itself

Abstract

We built a reference panel with 342 million autosomal variants using 78,195 individuals from the Genomics England (GEL) dataset, achieving a phasing switch error rate of 0.18% for European samples and imputation quality of r

Indexed as

Gene FrequencyGenome-Wide Association StudyHaplotypesPolymorphism, Single NucleotideEnglandExome SequencingGenome, HumanGenomicsHumansUK BiobankUnited KingdomWhite People

Identifiers

PMID39134668
PMCPMC11387190

What OpenQuestion holds

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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.