Evaluation of population structure inferred by principal component analysis or the admixture model

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Dokumenter

  • Fulltext

    Indsendt manuskript, 1,28 MB, PDF-dokument

Principal component analysis (PCA) is commonly used in genetics to infer and visualize population structure and admixture between populations. PCA is often interpreted in a way similar to inferred admixture proportions, where it is assumed that individuals belong to one of several possible populations or are admixed between these populations. We propose a new method to assess the statistical fit of PCA (interpreted as a model spanned by the top principal components) and to show that violations of the PCA assumptions affect the fit. Our method uses the chosen top principal components to predict the genotypes. By assessing the covariance (and the correlation) of the residuals (the differences between observed and predicted genotypes), we are able to detect violation of the model assumptions. Based on simulations and genome-wide human data, we show that our assessment of fit can be used to guide the interpretation of the data and to pinpoint individuals that are not well represented by the chosen principal components. Our method works equally on other similar models, such as the admixture model, where the mean of the data is represented by linear matrix decomposition.
OriginalsprogEngelsk
Artikelnummeriyad157
TidsskriftGenetics
Vol/bind225
Udgave nummer2
Antal sider14
ISSN0016-6731
DOI
StatusUdgivet - 2023

Bibliografisk note

Funding Information:
The authors are supported by the Independent Research Fund Denmark (grant number: 8021-00360B) and the University of Copenhagen through the Data+ initiative. SL acknowledges the financial support from the funding agency of China Scholarship Council. GG-E and AA are supported by the Independent Research Fund Denmark (grant numbers: 8049-00098B and DFF-0135-00211B, respectively).

Publisher Copyright:
© 2023 The Author(s). Published by Oxford University Press on behalf of The Genetics Society of America. All rights reserved.

ID: 371925290