Article

Promoter CpG density predicts downstream gene loss-of-function intolerance

2020-02-16

Abstract excerpt

The aggregation and joint analysis of large numbers of exome sequences has recently made it possible to de-rive estimates of intolerance to loss-of-function (LoF) variation for human genes. Here, we demonstrate strong and widespread coupling between genic LoF-intolerance and promoter CpG density across the human genome. Genes downstream of the most CpG-rich pro-moters (top 10% CpG density) have a 67.2% probability...

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Literature Corpus work: 8d8e5565-456c-5d4b-b0c9-dd376fea1366
DOI: 10.1101/2020.02.15.936351

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