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Article

Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity.

Nature genetics - 1 Jun 2022

Gazal Steven, Weissbrod Omer, Hormozdiari Farhad, Dey Kushal K, Nasser Joseph, Jagadeesh Karthik A, Weiner Daniel J, Shi Huwenbo, Fulco Charles P, O'Connor Luke J, Pasaniuc Bogdan, Engreitz Jesse M, Price Alkes L

Abstract excerpt

Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking strategies have been developed to link regulatory SNPs to the genes that they regulate in cis. Here, we developed a heritability-based framework for evaluating and combining different S2G strategies to optimize their informativeness for common...

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PMID: 35668300
DOI: 10.1038/s41588-022-01087-y
PMCID: PMC9894581

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