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Chunk #64 — Materials and Methods — Enrichment in DHSs

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Discovery of novel heart rate-associated loci using the Exome Chip.
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yes

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We performed two different enrichment analyses. First, we did a ‘known’ analysis using all 67 currently published lead SNVs to date [21 previously reported from the original GWAS (12) and 46 new loci from the recently published UK Biobank study (17)]. Second, we did an ‘all’ analysis using the lead SNVs at our five unreported novel loci and the five independent secondary SNVs that we found at previously reported loci; together with the 67 known signals, denoted as the ‘all’ analysis. We compared the enrichment results of the two analyses, in order to identify any new enrichment due to the inclusion of our novel loci. The enrichment is expressed as Z-score statistics. A Z-score of 2.58 was used as a threshold for statistical significance, which corresponds to false discovery rate (FDR) < 1.5%. We calculated the Z-scoreall − Z-scoreknown (ΔZ-score) for those tissue samples that were found statistically significant in the ‘all’ analysis in order to assess the effect of the 10 new, additional SNVs from our study.