Extended Data Fig. 5: De novo variants in R-loop regions affecting genes of interest with absence from gnomADv4. | Nature Genetics

Extended Data Fig. 5: De novo variants in R-loop regions affecting genes of interest with absence from gnomADv4.

From: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes

Extended Data Fig. 5

a, All de novo variants in RNU2-2 identified in 100KGP. b, All de novo variants in RNU5B-1 identified in 100KGP. The bottom lollipops on each plot are variants that failed stringent de novo filtering. Lightly shaded circles indicate the presence of that variant in gnomADv4.

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