Extended Data Fig. 5: Assessing variant density in the UK Biobank.
From: De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Median proportion of possible SNVs observed in UK Biobank per 18 bp window across 1,000 intergenic regions on chromosome 12 (grey) and RNU4-1, RNU4-2 (teal). A median of 76% of all possible SNVs in RNU4-2 are observed compared with 13% on average in the intergenic sequences of the same length (141 bp; P < 0.001, Monte Carlo Fisher-Pitman test).
