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Chunk #34 — Conclusion

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Dissecting the genetics of complex traits using summary association statistics.
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We conclude by emphasizing the importance of making summary association statistics publicly available. A 2012 editorial in the journal Nature Genetics asked its authors to publish or database summary association statistics for all SNPs analyzed106, broadly impacting the set of publicly available summary statistics in the years that followed (Table 1). The public release of summary statistics is a useful compromise in situations where sample consent restrictions or privacy concerns preclude the release of individual-level data in a public repository. Although even the release of summary statistics can in principle lead to privacy concerns107, more recent work has shown that such privacy attacks have low power when the summary sample size exceeds the effective number of independent markers (currently estimated at 60,000 in typical GWAS data sets108), implying that privacy concerns should not preclude the public release of summary statistics from large studies109–111. Indeed, some recent studies have created web portals where summary data can be publicly accessed and visualized63. Finally, we note the potential benefits of publicly releasing summary statistics that include summary LD information (i.e. correlations) between each