Article

Improved diagnosis of rare disease patients through application of constrained coding region annotation and de novo status

2022-08-19

Abstract excerpt

Identifying the pathogenic variant in a rare disease (RD) patient is the first step in ending their diagnostic odyssey. De novo (Dn) variants affecting protein-coding DNA are a well-established cause of Mendelian disorders in RD patients. Constrained coding regions (CCRs) are specific segments of coding DNA which are devoid of functional variants in healthy individuals. Furthermore, the most constrained regions, t...

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Literature Corpus work: 4f9a0d26-596a-5dd2-b641-581767b61cfd
DOI: 10.1101/2022.08.19.22278944

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