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Chunk #30 — METHODS — Genotyping and quality control

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Identification of ten loci associated with height highlights new biological pathways in human growth.
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Genotyping of the initial GWA studies is described elsewhere4,11,13-15, except for KORA, which is described in the Supplementary Methods. Genotyping in the European American height panel and the replication panels FINRISK97, PPP, FUSION stage 2 and KORA S4 was done using the Sequenom MassARRAY iPLEX platform. From the meta-analysis, we selected 78 SNPs (three iPLEX pools; six SNPs failed) for genotyping in the European American tall-short panel (n = 2,189): SNPs were first ranked using their meta-analytic P values, and then binned using the LD pattern from the HapMap Phase II CEU population (SNPs with r2 >0.5 to a SNP with a lower P value were binned together with that SNP). When a locus had more than one high-ranking bin, we only genotyped the most significant SNP such that only one SNP per locus or gene was genotyped. Because of the specific design of this DNA panel (near-ends of the height distribution) but also because effect sizes on height are small (and were inflated by the winner’s curse in the meta-analysis), we promoted for genotyping in larger follow-up cohorts markers