对银屑病使用WES加上panel做GWAS

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对银屑病使用WES加上panel做GWAS

这项研究2013年10月发表于Nature Genetics杂志，文章是 A large-scale screen for coding variants predisposing to psoriasis

以前关于psoriasis的gwas研究已经有13个了，发现了 44 个风险位点。

WES用是Illumina HiSeq 2000 platform 测序仪，以及NimbleGen 2.1M-probe的捕获芯片，共检测了1500人，包括800 psoriasis cases and 700 controls

而panel测序，共检测了20,005人，包括 10,003 psoriasis cases and 10,002 controls ，使用的是 SeqCap EZ Library (Roche NimbleGen)捕获芯片，然后同样是是Illumina HiSeq 2000 platform 测序仪，捕获区域包括：

  • (i) regions that encompassed the top associated SNVs in the exome sequencing stage (100 bp per SNV on average);

  • (ii) coding regions for the top 742 genes in gene-based tests;

  • (iii) coding regions for the 622 genes associated with immune diseases by GWAS.

可以下载的数据很少

1.Supplementary Table 7

742 genes by gene-based analysis from exome sequencing and targeted sequencing data

2.Supplementary Table 8

Targeted sequencing of 565 immune related genes (not included psoriasis GWAS loci) and results of gene-based test

3.Supplementary Table 9

Targeted sequencing of 57 genes in psoriasis GWAS loci and results of gene-based test

4.Supplementary Table 18

Depth and coverage per gene

补充材料信息非常丰富： Supplementary Text and Figures Supplementary Figures 1–8 and Supplementary Tables 1–6, 10–17 and 19

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