Fig. 1: Gene-based collapsing analysis. | Nature Communications

Fig. 1: Gene-based collapsing analysis.

From: Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts

Fig. 1

a First, variants in each gene are identified by sequencing. b Variants that are predicted to be damaging—those that are rare and annotated as likely to affect the functionality of the gene, such as coding variants—are then selected for analysis. c Finally, the number of cases with a qualifying variant in each gene is compared with the number of controls with a qualifying variant, producing one statistical result per gene instead of one per variant.

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