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Chunk #48 — Methods — Low-coverage WGS and high-coverage WES in the Framingham Heart Study

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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
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Investigators of the Framingham Heart Study (FHS) evaluated WGS data from TOPMed in comparison with sequencing data from CHARGE Consortium WGS and WES datasets. Supplementary Table 19 provides the counts and depth of each sequencing effort. The overlap of these three groups is 430 FHS study participants, on whom we report here. We use a subset of 263 unrelated study participants to calculate the numbers of singletons and doubletons, MAF, heterozygosity and all rates, to avoid bias from the family structure. Supplementary Information 1.3.2 provides further detail on the sequencing efforts and a detailed description of the comparison results.