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Updated: Jul 8, 2025

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Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate

Martin Jinye Zhang1,2,3, Arun Durvasula2,3,4, Colby Chiang5

  • 1Ray and Stephanie Lane Computational Biology Department, School of Computer Science, Carnegie Mellon University, Pittsburgh, PA, USA.

Medrxiv : the Preprint Server for Health Sciences
|December 18, 2023
PubMed
Summary

The study reveals that linked genetic variants (SNPs) influencing disease risk are not independent, challenging long-held assumptions. This finding impacts how we estimate heritability and understand disease genetics.

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