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Article

Fast and accurate estimation of multidimensional site frequency spectra from low-coverage high-throughput sequencing data.

GigaScience - 17 May 2022

Mas-Sandoval Alex, Pope Nathaniel S, Nielsen Knud Nor, Altinkaya Isin, Fumagalli Matteo, Korneliussen Thorfinn Sand

Abstract excerpt

BACKGROUND: The site frequency spectrum summarizes the distribution of allele frequencies throughout the genome, and it is widely used as a summary statistic to infer demographic parameters and to detect signals of natural selection. The use of high-throughput low-coverage DNA sequencing data can lead to biased estimates of the site frequency spectrum due to high levels of uncertainty in genotyping. RESULTS: Here...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to High-Throughput Nucleotide Sequencing

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Share to Polymorphism, Single Nucleotide

Share to Sequence Analysis, DNA

Source

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Identifiers

PMID: 35579549
DOI: 10.1093/gigascience/giac032
PMCID: PMC9112775

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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