Extended Data Fig. 1: Functional context and evolutionary constraints. | Nature Neuroscience

Extended Data Fig. 1: Functional context and evolutionary constraints.

From: Integrating whole-genome sequencing with multi-omic data reveals the impact of structural variants on gene regulation in the human brain

Extended Data Fig. 1

a, Cumulative fraction of SVs by minor allele frequency (MAF). b, Enrichment of SVs overlapping each region stratified by common (MAF > 5%), rare (MAF < 5%), and singleton. Enrichment of OMIM genes (c), LoF intolerant genes (d), and Haploinsufficient genes (e) overlapping SVs in different frequency stratum. Lines in the enrichment plots indicate Wald confidence intervals while the midpoints represent the relative log odds.

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