Evidence map›Paper›PMID 42848896›Full record

ArticleScience (New York, N.Y.)2026

Message in a bottleneck: Nested founder effects from French Polynesia to Rapa Nui and Hawai'i.

Cole Shanks, Edward C Huang, Christophe Thomassin, Anne-Katrin Emde, Vahinetua Rodière, Mauricio Moraga, Karla Sandoval, Tony Merriman, Tristan Pascart, Andrés Moreno-Estrada and 3 more

Abstract read
In one paragraph

Article in Science (New York, N.Y.), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

13 authors.

Cole Shanks *Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.ORCID 0009-0009-9633-6695
Edward C Huang *Department of Computer Science, Stanford University, Stanford, CA, USA.ORCID 0009-0000-2471-0531
Christophe ThomassinGenomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.ORCID 0009-0008-9583-4425
Anne-Katrin EmdeVariant Bio, Seattle, WA, USA.
Vahinetua RodièreDirection de la Santé de Polynésie Française, Papeete, Tahiti, French Polynesia.
Mauricio MoragaHuman Genetics Program, Institute of Biomedical Sciences, Faculty of Medicine, University of Chile, Santiago, Chile.ORCID 0000-0002-8217-9950
Karla SandovalAging Research Center, Cinvestav Sede Sur, Center for Research and Advanced Studies of the National Polytechnic Institute, Mexico City, Mexico.ORCID 0000-0002-6175-2463
Tony MerrimanDivision of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL, USA.ORCID 0000-0003-0844-8726
Tristan PascartDepartment of Rheumatology, Lille Catholic University, Lille, France.ORCID 0000-0002-8395-826X
Andrés Moreno-EstradaAging Research Center, Cinvestav Sede Sur, Center for Research and Advanced Studies of the National Polytechnic Institute, Mexico City, Mexico.ORCID 0000-0001-8329-8292
Stephane E CastelVariant Bio, Seattle, WA, USA.ORCID 0000-0002-0707-2133
Keolu FoxDepartment of Anthropology, University of California, San Diego, La Jolla, CA, USA.ORCID 0000-0003-4215-5273
Alexander G IoannidisGenomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.ORCID 0000-0002-4735-7803

Funding

NHGRI PAGE Coordinating CenterU01HG007419 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2013 to 2017
$3.7M
Diverse ancestry biobank to map biomedical traits and elucidate health disparitieU01HG007417 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI LOOS, RUTH JF · 2013 to 2017
$3.5M
UCSC Graduate Program in Genome SciencesT32HG012344 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI Angela Norie Brooks, Christopher Vollmers · 2022 to 2026
$1.5M
NHGRI NIH HHS T32 HG012344NHGRI NIH HHS U01 HG007417NHGRI NIH HHS U01 HG007419
6 · The paper itself

Abstract

Founder effects can lead to strong, population-specific allele frequency differentiation, including autosomal recessive conditions. Their characterization in European-descent groups, such as the Finnish and Amish, has resulted in actionable genetic tests for each. We show that Polynesians experienced order-of-magnitude stronger cumulative founder effects during their settlement of Eastern Polynesia. Using whole-genome sequences spanning Polynesia, we show that two of the most bottlenecked populations are Hawai'i and Easter Island (Rapa Nui) and that these two most closely genetically related yet geographically distant islands were likely settled by the same ultravoyagers with earlier ancestral roots in Mangareva. We identify clinical genetic variation generated by this sequence of successive oceanic founder events, including a loss-of-function

Indexed as

EndodeoxyribonucleasesExodeoxyribonucleasesFounder EffectLoss of Function MutationMultifunctional EnzymesPacific Island PeopleGene FrequencyGenetic VariationHawaiiHumansPolynesiaPolynucleotide AdenylyltransferaseWhole Genome SequencingEndodeoxyribonucleasesExodeoxyribonucleasesFAN1 protein, humanMultifunctional EnzymesPolynucleotide Adenylyltransferase

Identifiers

PMID42848896
PMCPMC13681287

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.