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Article

Phenotype-specific differences in polygenicity and effect size distribution across functional annotation categories revealed by AI-MiXeR.

Bioinformatics (Oxford, England) - 15 Sept 2020

Shadrin Alexey A, Frei Oleksandr, Smeland Olav B, Bettella Francesco, O'Connell Kevin S, Gani Osman, Bahrami Shahram, Uggen Tea K E, Djurovic Srdjan, Holland Dominic, Andreassen Ole A, Dale Anders M

Abstract excerpt

MOTIVATION: Determining the relative contributions of functional genetic categories is fundamental to understanding the genetic etiology of complex human traits and diseases. Here, we present Annotation Informed-MiXeR, a likelihood-based method for estimating the number of variants influencing a phenotype and their effect sizes across different functional annotation categories of the genome using summary...

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PMID: 32539089
DOI: 10.1093/bioinformatics/btaa568
PMCID: PMC7750998

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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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