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2 | 1 | ## The unified AD GWAS-xQTL loci table (`unified_AD_loci_xQTL_summary.xlxs`) |
3 | 2 |
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4 | 3 | Each row correspond to a variant in a locus that have been associated to AD GWAS (Combining finemaping and Coloc results for the 4 GWAS studies data used). |
5 | 4 |
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6 | | -### Unified metric of support for variant level priorization |
7 | | - |
8 | | -For each AD locus, only the variants with maximum GWAS PIP/VCP ('inclusion score') >0.1 are included, and we take only the top5 based on GWAS PIP/VCP + the top5 based on cV2F score. If no variant with inclusion score>0.1, only the top1 variant of GWAS PIP/VCP, xQTL PIP/VCP and cV2F score is displayed. |
| 5 | +For each AD locus, variants following this criteria are included: |
| 6 | +- with maximum GWAS PIP/VCP ('inclusion score') >0.1 |
| 7 | +- the top5 variants based on cV2F score are included. |
| 8 | +- the top1 variant based on GWAS PIP/VCP |
| 9 | +- the top1 variant based on xQTL PIP/VCP, for each broad context. |
9 | 10 |
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10 | 11 | If the variant have been associated to an xQTL, summary are shown in xQTLs summary part. |
11 | 12 |
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12 | | -### Unified metric of support for gene level prioritization |
13 | | -Contexts are ordered and green colored according to a confidence score (C1 / darkgreen is best, C6/light green is lowest confidence) which combined TWAS, MR, finemapping and coloc results: |
| 13 | +### Unified metric of confidence levels of support for gene level prioritization |
| 14 | + |
| 15 | +xQTL contexts are ordered and green colored according to a confidence score (C1 / darkgreen is best, C6/light green is lowest confidence) which combined TWAS, MR, finemapping and coloc results: |
| 16 | +- C1: the gene is MR or cTWAS significant, and the variant is in a CS95% overlapping between the GWAS and the xQTL (from single context finemapping) |
| 17 | +- C2: the gene is MR or cTWAS significant, and the variant is colocalizing (using colocboost) between the GWAS and the xQTL |
| 18 | +- C3: the gene is TWAS significant, and the variant is colocalizing or in CS95% overlapping between the GWAS and the xQTL |
| 19 | +- C4: the variant is in a CS95% overlapping between the GWAS and the xQTL (from single context finemapping) |
| 20 | +- C5: the variant is colocalizing or overlapping with any xQTL CS (multicontext, cs50, cs70) or with sn-sQTL |
| 21 | +- C6: the gene is TWAS significant only |
14 | 22 |
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15 | | -- C1: cTWAS/MR, cs95 single context fine-mapping overlap |
16 | | -- C2: cTWAS/MR, colocalization |
17 | | -- C3: TWAS and (cs95 fine-mapping overlap OR colocalization) |
18 | | -- C4: cs95 single context fine-mapping overlap |
19 | | -- C5: colocalization OR any fine-mapping overlap (multicontext, cs50, cs70..) |
20 | | -- C6: TWAS only |
| 23 | +**Notes:** |
| 24 | +TWAS significant: having TWAS pvalue <2.5e-6for the best method OR for more than 50% of the methods. |
| 25 | +MR significant: being TWAS significant + having cpip>0.5 & num_CS >=2& I2<0.5. |
| 26 | +cTWAS significant: the xQTL explain the GWAS zscore with pip > 0.75 |
21 | 27 |
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22 | 28 | The '+' or '-' after the context name correspond to the direction of the effect on the gene/molecular trait observed in finemapping (first '+/-') or in colocboost (second '+/-'). |
23 | 29 | 'Effect' column correspond to the effect on the molecular traits, |
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