Estimation of site frequency spectra from low-coverage sequencing data using stochastic EM reduces overfitting, runtime, and memory usage

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Dokumenter

  • Fulltext

    Forlagets udgivne version, 2,27 MB, PDF-dokument

The site frequency spectrum (SFS) is an important summary statistic in population genetics used for inference on demographic history and selection. However, estimation of the SFS from called genotypes introduce bias when working with low-coverage sequencing data. Methods exist for addressing this issue, but sometimes suffer from two problems. First, they can have very high computational demands, to the point that it may not be possible to run estimation for genome-scale data. Second, existing methods are prone to overfitting, especially for multi-dimensional SFS estimation. In this article, we present a stochastic expectation-maximisation algorithm for inferring the SFS from NGS data that addresses these challenges. We show that this algorithm greatly reduces runtime and enables estimation with constant, trivial RAM usage. Further, the algorithm reduces overfitting and thereby improves downstream inference. An implementation is available at github.com/malthesr/winsfs.

OriginalsprogEngelsk
Artikelnummeriyac148
TidsskriftGenetics
Vol/bind222
Udgave nummer4
Antal sider15
ISSN1943-2631
DOI
StatusUdgivet - 2022

Bibliografisk note

© The Author(s) 2022. Published by Oxford University Press on behalf of the Genetics Society of America. All rights reserved. For permissions, please email: journals.permissions@oup.com.

ID: 321165065