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BioinformaticsBioinformatics
Peer-reviewed journal article

quincunx: an R package to query, download and wrangle PGS Catalog data

Ramiro MagnoiD, Isabel DuarteiD, Ana-Teresa MaiaiD

Abstract

MotivationThe Polygenic Score (PGS) Catalog is a recently established open database of published polygenic scores that, to date, has collected, curated, and made available 721 polygenic scores from over 133 publications. The PGS Catalog REST API is the only method allowing programmatic access to this resource. ResultsHere, we describe quincunx, an R package that provides the first client interface to the PGS Catalog REST API. quincunx enables users to query and quickly retrieve, filter and integrate metadata associated with polygenic scores, as well as polygenic scoring files in tidy table format. Availabilityquincunx is freely available under an MIT License, and can be accessed from https://github.com/maialab/quincunx.

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02 /Specification & Classification

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