Evidence map›Paper›PMID 42754676›Full record

ArticleCommunications biology2026

The Soifua Manuia reference panel with 2,570 Samoan haplotypes improves genotype imputation quality among Samoans.

Jenna C Carlson, Mohanraj Krishnan, Shuwei Liu, Kevin J Anderson, Jerry Z Zhang, Lauren M Spor, Toni-Ann J Yapp, Elizabeth A Chiyka, Devin A Dikec, Hong Cheng and 8 more

Abstract read
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In one paragraph

Article in Communications biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Structural Variant Imputation in Samoans Using a Population-Specific Reference Panel.medRxiv : the preprint server for health sciences · 2026
    Article
  3. Article
  4. Article
  5. Article
4 · The record

Corrections and comments

  • Update of
    The2025
5 · Who and what money

Authors and funding

18 authors.

Jenna C CarlsonDepartment of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA. jnc35@pitt.edu.ORCID 0000-0001-5483-0833
Mohanraj KrishnanDepartment of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.
Shuwei LiuDepartment of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.
Kevin J AndersonDepartment of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.
Jerry Z ZhangDepartment of Biostatistics and Health Data Science, University of Pittsburgh, Pittsburgh, PA, USA.
Lauren M SporDepartment of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.ORCID 0009-0008-9587-8452
Toni-Ann J YappDepartment of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.
Elizabeth A ChiykaDepartment of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.
Devin A DikecDepartment of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.ORCID 0009-0000-0605-5596
Hong ChengDepartment of Environmental and Public Health Sciences, College of Medicine, University of Cincinnati, Cincinnati, OH, USA.
Take NaseriNaseri & Associates Public Health Consultancy Firm and Family Health Clinic, Apia, Samoa.
Muagututi'a Sefuiva ReupenaLutia i Puava ae Mapu i Fagalele, Apia, Samoa.
Satupa'itea VialiOceania University of Medicine, Apia, Samoa.
Ranjan DekaDepartment of Environmental and Public Health Sciences, College of Medicine, University of Cincinnati, Cincinnati, OH, USA.
Nicola L HawleyDepartment of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT, USA.ORCID 0000-0002-2601-3454
Stephen T McGarveyDepartment of Epidemiology, Center for Global Public Health International Health Institute, Brown University School of Public Health, Providence, RI, USA.ORCID 0000-0003-1233-6970
Daniel E WeeksDepartment of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.ORCID 0000-0001-9410-7228
Ryan L MinsterDepartment of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.ORCID 0000-0001-7382-6717

Funding

REPRODUCTIVE AND DEVELOPMENTAL TOXICOLOGY RESEARCHP30ES006096 · NIEHS · UNIVERSITY OF CINCINNATI · PI PINNEY, SUSAN MENGEL · 1992 to 2022
$35.4M
Studies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5M
Rare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9M
Integrated cellular, mouse and human research on a novel missense variant influencing adiposity in SamoansR01HL093093 · NHLBI · BROWN UNIVERSITY · PI MCGARVEY, STEPHEN T. · 2009 to 2019
$8.2M
Next Generation Association Studies of Adiposity in Samoans Enhanced by a Samoan-Specific Whole Genome Sequence Reference PanelR01HL133040 · NHLBI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Ryan Lee Minster · 2017 to 2026
$7.5M
Rare variants and NHLBI traits in deeply phenotyped cohortsU01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2017 to 2018
$5.6M
GENOME SCAN FOR NIDDM SUSCEPTIBILITY GENES AMONG SAMOANSR01DK055406 · NIDDK · UNIVERSITY OF CINCINNATI · PI DEKA, RANJAN · 1998 to 2002
$664k
GENETICS OF CVD RISK FACTORS IN SAMOANSR01HL052611 · NHLBI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI KAMBOH, M. ILYAS · 1995 to 1998
–
ADIPOSITY INSULIN ELECTROLYTES AND SAMOAN BLOOD PRESSURER01AG009375 · NIA · MIRIAM HOSPITAL · PI MCGARVEY, STEPHEN T. · 1990 to 1994
–
NHLBI NIH HHS HHSN268201100037CNHLBI NIH HHS HHSN268201500016CNHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS R01 HL052611NHLBI NIH HHS R01 HL093093NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL133040NHLBI NIH HHS U01 HL120393NIA NIH HHS R01 AG009375NIDDK NIH HHS R01 DK055406NIEHS NIH HHS P30 ES006096U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) R01HL052611U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) R01HL093093U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) R01HL133040U.S. Department of Health & Human Services | NIH | National Institute of Diabetes and Digestive and Kidney Diseases (National Institute of Diabetes & Digestive & Kidney Diseases) R01DK055406U.S. Department of Health & Human Services | NIH | National Institute of Environmental Health Sciences (NIEHS) P30ES006096U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging) R01AG009375
6 · The paper itself

Abstract

Genotype imputation is fundamental to association studies, and yet even gold standard panels like TOPMed are limited in the populations for which they yield good imputation. Specifically, Pacific Islanders are poorly represented in extant panels. To address this, we used whole-genome sequencing from 1,285 Samoan individuals combined with 1000 Genomes Project (1KGP) individuals to construct an imputation reference panel that better represents Pacific Islander, specifically Samoan, genetic variation. Here we show that this panel yielded up to two times more well-imputed (r

Indexed as

GenotypeHaplotypesPacific Island PeopleGene FrequencyGenetic VariationGenome-Wide Association StudyHumansPolymorphism, Single NucleotideSamoa

Identifiers

PMID42754676
PMCPMC13586404

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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.