Dataset

DZNE-2026-01083

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Dataset: Annotations for 'Genomic foundation models do not yet boost common variant discovery', v1

Bass, A. ; Park, J. ; Mukherjee, S.DZNE* ; Whittaker, J.

2026
Zenodo

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Please use a persistent id in citations: doi:10.5281/zenodo.23063752

Abstract: The variant annotations used in the manuscript "Genomic foundation models do not yet boost common variant discovery", on ~7M 1000 Genomes EUR SNPs (MAF > 0.01). The models included are AlphaGenome (eight output types), the 102 principal components of Borzoi variant effect scores (Sniff), GPN-Star constraint scores (three, with their top-0.1% indicators), Zoonomia constraint (two), the AlphaGenome variant impact score (AVI), and the 96 baselineLD (v2.2) annotations.

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Contributing Institute(s):

1. Statistics and Machine Learning (AG Mukherjee)

Research Program(s):

1. 354 - Disease Prevention and Healthy Aging (POF4-354) (POF4-354)

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