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Article

Gene-based burden scores identify rare variant associations for 28 blood biomarkers.

BMC genomic data - 4 Sept 2023

Aldisi Rana, Hassanin Emadeldin, Sivalingam Sugirthan, Buness Andreas, Klinkhammer Hannah, Mayr Andreas, Fröhlich Holger, Krawitz Peter, Maj Carlo

Abstract excerpt

BACKGROUND: A relevant part of the genetic architecture of complex traits is still unknown; despite the discovery of many disease-associated common variants. Polygenic risk score (PRS) models are based on the evaluation of the additive effects attributable to common variants and have been successfully implemented to assess the genetic susceptibility for many phenotypes. In contrast, burden tests are often used to...

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PMID: 37667186
DOI: 10.1186/s12863-023-01155-0
PMCID: PMC10476296

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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