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Sizing up whole-genome sequencing studies of common diseases

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The triplet code underpins analyses of rare and de novo mutations in exome sequencing data, but analysis of the noncoding genome is much more challenging. A new analytical framework for… Click to show full abstract

The triplet code underpins analyses of rare and de novo mutations in exome sequencing data, but analysis of the noncoding genome is much more challenging. A new analytical framework for common, complex diseases highlights the need for very large samples to overcome the unavoidable multiple-testing burden and hence provides preemptive warnings against underpowered studies.

Keywords: studies common; whole genome; common diseases; sizing whole; sequencing studies; genome sequencing

Journal Title: Nature Genetics
Year Published: 2018

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