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Top three newly identified candidate genes reported by gene-ε for the six quantitative traits studied in the UK Biobank (using imputed genotypes with gene boundaries defined by the NCBI’s RefSeq database in the UCSC Genome Browser [27]).

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Figshare2020-06-15 更新2026-04-28 收录
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We call these novel candidate genes because they are not listed as being associated with the trait of interest in either the GWAS catalog or dbGaP, and they have top posterior enrichment probabilities with the trait using RSS analysis. Each gene is annotated with past functional studies that link them to the trait of interest. We also report each gene’s overall trait-specific significance rank (out of 14,322 autosomal genes analyzed for each trait), as well as their heritability estimates from gene-ε using Elastic Net to regularize GWA SNP-level effect size estimates. The traits are: height; body mass index (BMI); mean corpuscular volume (MCV); mean platelet volume (MPV); platelet count (PLC); and waist-hip ratio (WHR). ♣: Enriched genes whose top SNP is not marginally significant according to a genome-wide Bonferroni-corrected threshold (P = 4.67 × 10−8 correcting for 1,070,306 SNPs analyzed; see highlighted rows in S19–S24 Tables for complete list). *: Multiple genes were tied for this ranking.
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2020-06-15
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