Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity
Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity
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Publisher
New York: Nature Publishing Group US
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Language
English
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New York: Nature Publishing Group US
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Contents
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 di...
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Full title
Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9894581
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9894581
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ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/s41588-022-01087-y
