Evidence map›Paper›PMID 38745108›Full record

ArticleNature computational science2024

A resampling-based approach to share reference panels.

Théo Cavinato, Simone Rubinacci, Anna-Sapfo Malaspinas, Olivier Delaneau

Abstract read
In one paragraph

Article in Nature computational science, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–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

7 citing papers in PubMed.

  1. Article
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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

4 authors.

Théo CavinatoDepartment of Computational Biology, University of Lausanne, Lausanne, Switzerland.ORCID 0009-0003-9916-5525
Simone RubinacciDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Anna-Sapfo Malaspinas *Department of Computational Biology, University of Lausanne, Lausanne, Switzerland.
Olivier Delaneau *Regeneron Genetics Center, Tarrytown, NY, USA. olivier.delaneau@regeneron.com.ORCID 0000-0002-3906-8446

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

For many genome-wide association studies, imputing genotypes from a haplotype reference panel is a necessary step. Over the past 15 years, reference panels have become larger and more diverse, leading to improvements in imputation accuracy. However, the latest generation of reference panels is subject to restrictions on data sharing due to concerns about privacy, limiting their usefulness for genotype imputation. In this context, here we propose RESHAPE, a method that employs a recombination Poisson process on a reference panel to simulate the genomes of hypothetical descendants after multiple generations. This data transformation helps to protect against re-identification threats and preserves data attributes, such as linkage disequilibrium patterns and, to some degree, identity-by-descent sharing, allowing for genotype imputation. Our experiments on gold-standard datasets show that simulated descendants up to eight generations can serve as reference panels without substantially reducing genotype imputation accuracy.

Indexed as

Genome-Wide Association StudyGenotypeAlgorithmsComputer SimulationGenome, HumanHaplotypesHumansInformation DisseminationLinkage DisequilibriumModels, GeneticPoisson DistributionPolymorphism, Single Nucleotide

Identifiers

PMID38745108
PMCPMC11136649

What Socratic holds

Textmetadata
LicenceCC BY
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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 Socratic graph.