Evidence map›Paper›PMID 33072440›Full record

ArticlePeerJ2020

Comparing local ancestry inference models in populations of two- and three-way admixture.

Ryan Schubert, Angela Andaleon, Heather E Wheeler

Abstract read
In one paragraph

Article in PeerJ, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 1 pooled it
–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

20 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
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  6. Article
  7. Review
  8. Old vs. New Local Ancestry Inference in HCHS/SOL: A Comparative Study.bioRxiv : the preprint server for biology · 2025
    Article
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  10. Article
  11. Computational Genomics and Its Applications to Anthropological Questions.American journal of biological anthropology · 2024
    Review
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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

3 authors.

Ryan SchubertDepartment of Mathematics and Statistics, Loyola University Chicago, Chicago, IL, United States of America.
Angela AndaleonDepartment of Biology, Loyola University Chicago, Chicago, IL, United States of America.
Heather E WheelerDepartment of Biology, Loyola University Chicago, Chicago, IL, United States of America.

Funding

Predicting gene regulation across populations to understand mechanisms underlying complex traitsR15HG009569 · NHGRI · LOYOLA UNIVERSITY OF CHICAGO · PI WHEELER, HEATHER ELIZABETH · 2017 to 2023
$1.3M
NHGRI NIH HHS R15 HG009569
6 · The paper itself

Abstract

Local ancestry estimation infers the regional ancestral origin of chromosomal segments in admixed populations using reference populations and a variety of statistical models. Integrating local ancestry into complex trait genetics has the potential to increase detection of genetic associations and improve genetic prediction models in understudied admixed populations, including African Americans and Hispanics. Five methods for local ancestry estimation that have been used in human complex trait genetics are LAMP-LD (2012), RFMix (2013), ELAI (2014), Loter (2018), and MOSAIC (2019). As users rather than developers, we sought to perform direct comparisons of accuracy, runtime, memory usage, and usability of these software tools to determine which is best for incorporation into association study pipelines. We find that in the majority of cases RFMix has the highest median accuracy with the ranking of the remaining software dependent on the ancestral architecture of the population tested. Additionally, we estimate the O(n) of both memory and runtime for each software and find that for both time and memory most software increase linearly with respect to sample size. The only exception is RFMix, which increases quadratically with respect to runtime and linearly with respect to memory. Effective local ancestry estimation tools are necessary to increase diversity and prevent population disparities in human genetics studies. RFMix performs the best across methods, however, depending on application, other methods perform just as well with the benefit of shorter runtimes. Scripts used to format data, run software, and estimate accuracy can be found at https://github.com/WheelerLab/LAI_benchmarking.

Indexed as

AdmixtureBenchmarkingHuman geneticsLocal ancestryPopulation genetics

Identifiers

PMID33072440
PMCPMC7537619

What OpenQuestion 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 OpenQuestion graph.