Evidence mapPaperPMID 40305331Full record

ArticleBiomolecules2025

A Pangenomic Approach to Improve Population Genetics Analysis and Reference Bias in Underrepresented Middle Eastern and Horn of Africa Populations.

Adrien Oliva, Rachel Foare, Peter Campbell, Natalie A Twine, Denis C Bauer, Angad Singh Johar

Abstract read
In one paragraph

Article in Biomolecules, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. 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

6 authors.

Adrien OlivaAustralian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation (CSIRO), Melbourne 3169, Australia.ORCID 0000-0001-9950-7220
Rachel FoareLife Sciences and Health Graduate School, Université Paris-Saclay, 3 Rue Joliot Curie, 91190 Gif-sur-Yvette, France.
Peter CampbellInformation Management and Technology (IM&T), Commonwealth Scientific and Industrial Research Organisation (CSIRO), Melbourne 3169, Australia.
Natalie A TwineAustralian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation (CSIRO), Melbourne 3169, Australia.ORCID 0000-0002-2051-8275
Denis C BauerAustralian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation (CSIRO), Melbourne 3169, Australia.
Angad Singh JoharMenzies Institute of Medical Research, The University of Tasmania, Hobart 7000, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genomics plays a crucial role in addressing health disparities, yet most studies rely on the hg38 linear reference genome, limiting the potential of pangenomic approaches, particularly for underrepresented populations. In this study, we focus on characterising East African populations, particularly Somalis, by constructing a variation graph using Mozabites from the Human Genome Diversity Project (HGDP) given their ancestral affinity with Somalis. We evaluated the effectiveness of this graph-based reference in estimating effective population sizes (

Indexed as

Genetics, PopulationGenomicsGene FrequencyGenome, HumanGenome-Wide Association StudyHumansMiddle EastPolymorphism, Single NucleotidePopulation Densitygenomic medicinepangenomicspopulation geneticsreference biasunderrepresented populationsvariation graph

Identifiers

PMID40305331
PMCPMC12025191

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.