Evidence map›Paper›PMID 40379651›Full record

ArticleNature communications2025

Tracing human genetic histories and natural selection with precise local ancestry inference.

Jon Lerga-Jaso, Biljana Novković, Deepu Unnikrishnan, Varuna Bamunusinghe, Marcelinus R Hatorangan, Charlie Manson, Haley Pedersen, Alex Osama, Andrew Terpolovsky, Sandra Bohn and 6 more

Abstract read
In one paragraph

Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. 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

16 authors.

Jon Lerga-Jaso *Research & Development, Omicsedge, Miami, FL, USA.ORCID http://orcid.org/0000-0003-4807-1900
Biljana Novković *Research & Development, Omicsedge, Miami, FL, USA.ORCID http://orcid.org/0000-0002-7854-5006
Deepu UnnikrishnanResearch & Development, Omicsedge, Miami, FL, USA.ORCID http://orcid.org/0009-0002-7955-987X
Varuna BamunusingheResearch & Development, Omicsedge, Miami, FL, USA.ORCID http://orcid.org/0000-0002-3854-2724
Marcelinus R HatoranganResearch & Development, Omicsedge, Miami, FL, USA.ORCID http://orcid.org/0000-0001-8435-2561
Charlie MansonResearch & Development, Omicsedge, Miami, FL, USA.
Haley PedersenResearch & Development, Omicsedge, Miami, FL, USA.ORCID http://orcid.org/0009-0003-4485-4489
Alex OsamaResearch & Development, Omicsedge, Miami, FL, USA.
Andrew TerpolovskyResearch & Development, Omicsedge, Miami, FL, USA.ORCID http://orcid.org/0000-0001-7368-2055
Sandra BohnResearch & Development, Omicsedge, Miami, FL, USA.ORCID http://orcid.org/0000-0001-8441-2798
Adriano De MarinoResearch & Development, Omicsedge, Miami, FL, USA.
Abdallah A MahmoudResearch & Development, Omicsedge, Miami, FL, USA.ORCID http://orcid.org/0000-0002-0311-2644
Karatuğ O BircanResearch & Development, Omicsedge, Miami, FL, USA.ORCID http://orcid.org/0000-0003-0079-6144
Umar KhanResearch & Development, Omicsedge, Miami, FL, USA.
Manfred G GrabherrResearch & Development, Omicsedge, Miami, FL, USA.
Puya G YazdiResearch & Development, Omicsedge, Miami, FL, USA. pyazdi@omicsedge.com.ORCID http://orcid.org/0000-0003-3456-8043

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Local ancestry inference is crucial for unraveling demographic histories, discovering selection signals, and including admixed individuals in genomic studies for improved equity and portability. To date, the precision and resolution of local ancestry inference were limited by technical and dataset issues. To address them, we present Orchestra, a model we train on over 10,000 single-origin individuals from 35 worldwide populations that demonstrates superior accuracy in benchmarking analyzes. We employ Orchestra to shed light on the demographic history of Latin Americans, finding trace ancestries supported by historical records. We then deploy it to offer insight on the debated Ashkenazi Jewish origins, highlighting their South European heritage. Finally, Orchestra enables us to map selection signatures, identifying trace Scandinavian ancestry in British samples and unveiling an immune-rich region linked to respiratory infections passed down from the Viking conquests. Our work significantly advances the field of local ancestry inference, highlighting its use in admixed populations.

Indexed as

Genetics, PopulationSelection, GeneticGenome, HumanHumansJewsModels, GeneticPolymorphism, Single Nucleotide

Identifiers

PMID40379651
PMCPMC12084304

What OpenQuestion holds

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LicenceCC BY-NC-ND
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.