Evidence map›Paper›PMID 28729679›Full record

ArticleScientific reports2017

A population-specific reference panel empowers genetic studies of Anabaptist populations.

Liping Hou, Rachel L Kember, Jared C Roach, Jeffrey R O'Connell, David W Craig, Maja Bucan, William K Scott, Margaret Pericak-Vance, Jonathan L Haines, Michael H Crawford and 2 more

Erratum issuedAbstract read
In one paragraph

Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing 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

15 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Exonic Variation and Its Clinical Impact in 7221 Old Order Amish.American journal of medical genetics. Part A · 2025
    Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. The genetics of bipolar disorder.Molecular psychiatry · 2020
    Review
  12. Article
  13. Article
  14. Article
  15. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors.

Liping HouHuman Genetics Branch, National Institute of Mental Health Intramural Research Program, Bethesda, MD, 20892, USA. liping.hou@nih.gov.
Rachel L KemberDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Jared C RoachInstitute for Systems Biology, Seattle, WA, 98109, USA.
Jeffrey R O'ConnellDivision of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, 21201, USA.
David W CraigNeurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.
Maja BucanDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
William K ScottJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, 33136, USA.ORCID 0000-0001-9336-6404
Margaret Pericak-VanceJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, 33136, USA.
Jonathan L HainesInstitute for Computational Biology, Case Western Reserve University, Cleveland, OH, 44106, USA.ORCID 0000-0002-4351-4728
Michael H CrawfordDepartment of Anthropology, University of Kansas, Lawrence, KS, 66045, USA.
Alan R ShuldinerDivision of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, 21201, USA.
Francis J McMahonHuman Genetics Branch, National Institute of Mental Health Intramural Research Program, Bethesda, MD, 20892, USA. mcmahonf@mail.nih.gov.ORCID 0000-0002-9469-305X

Funding

Identification of Genes Involved in Major Mood DisordersZIAMH002843 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI MCMAHON, FRANCIS J · 2009 to 2025
$24.5M
Genetic Studies of Dementia in the AmishR01AG019085 · NIA · VANDERBILT UNIVERSITY · PI HAINES, JONATHAN L · 2001 to 2011
$11.0M
Genetic Epidemiology of Age-Related Macular Degeneration in the Older Order AmishR01EY023164 · NEI · UNIVERSITY OF PENNSYLVANIA · PI PERICAK-VANCE, MARGARET A., STAMBOLIAN, DWIGHT EDWARD · 2013 to 2017
$6.2M
Genetic Studies of Successful Aging in the AmishR01AG019726 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI SCOTT, WILLIAM K. · 2003 to 2007
$2.9M
NEI NIH HHS R01 EY023164NIA NIH HHS R01 AG019085NIA NIH HHS R01 AG019726
6 · The paper itself

Abstract

Genotype imputation is a powerful strategy for achieving the large sample sizes required for identification of variants underlying complex phenotypes, but imputation of rare variants remains problematic. Genetically isolated populations offer one solution, however population-specific reference panels are needed to assure optimal imputation accuracy and allele frequency estimation. Here we report the Anabaptist Genome Reference Panel (AGRP), the first whole-genome catalogue of variants and phased haplotypes in people of Amish and Mennonite ancestry. Based on high-depth whole-genome sequence (WGS) from 265 individuals, the AGRP contains >12 M high-confidence single nucleotide variants and short indels, of which ~12.5% are novel. These Anabaptist-specific variants were more deleterious than variants with comparable frequencies observed in the 1000 Genomes panel. About 43,000 variants showed enriched allele frequencies in AGRP, consistent with drift. When combined with the 1000 Genomes Project reference panel, the AGRP substantially improved imputation, especially for rarer variants. The AGRP is freely available to researchers through an imputation server.

Identifiers

PMID28729679
PMCPMC5519631

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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.