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

2021-08-05

Abstract excerpt

Although genome-wide association studies (GWAS) have identified thousands of disease-associated common SNPs, these SNPs generally do not implicate the underlying 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 , but it is unclear how these strategies should be applied in the context of in...

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Literature Corpus work
9b9f9aef-7153-5a75-9f89-183ad2d82748
DOI
10.1101/2021.08.02.21261488
Open publication

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Combining SNP-to-gene linking strategies to pinpoint disease genes and assess disease omnigenicityDOI 10.1101/2021.08.02.21261488
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