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Collating regional constraint scores

RD Ruebena Dawes
ML Monkol Lek
SC Sandra T. Cooper
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An aggregated list of genes with regional constraint were derived and collated from three studies.4–6 (1) Genes with regional differences in missense constraint were downloaded from,5 who classified genes with regional missense constraint as those with a fraction of expected versus observed genetic variation of (γ) ≤ 0.6.5 (2) Genes defined as those with regional constraint within coding regions were downloaded from the github repository associated with4 (https://github.com/quinlan-lab/ccrhtml), who classified genes with regional missense constraint as those with coding region constraint within the 99th percentile among all protein-coding genes.4 (3) 1996 genes depleted for truncating variants in regions predicted to avoid nonsense mediated decay was downloaded from the ref. 6

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