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Chunk #20 — Results — Gene prioritization

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Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder.
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One research objective was to identify the genes with the greatest evidence of being responsible for the associations observed at each identified PTSD locus. Following recent research methods41, we prioritized genes based on weighted sum of evidence scores taken across the functional annotation and post-GWAS analyses (Fig. 1b). Based on the absolute and relative scores of genes within risk loci, we ranked genes into Tier 1 (greater likelihood of being the causal risk gene) and Tier 2 (prioritized over other GWAS-implicated genes, but lower likelihood than Tier 1 of being the causal gene). 75% of loci contained prioritized genes (Tier 1 or Tier 2); the remaining loci did not contain any genes over the minimum threshold of evidence (score ≥ 4) to suggest prioritization. The prioritized genes for the top 20% of loci (ranked by locus P-value) are shown in Figure 4. A complete list of scores and rankings for all 415 protein coding genes mapped to risk loci is available in Supplementary Data 4.