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Jonathan Pritchard is a careful thinker with a knack for recognizing inconvenient truths. His article proposing that common, complex diseases might actually comprise many different conditions caused by individually rare genetic events , nicely anticipated the “rare variant revolution” initiated by the discovery of CNVs [2] that continues to gain steam in the era of whole exome and whole genome sequencing.

Casting a Shadow of Doubt over the GWAS Parade