Article

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms

2023-04-03

Abstract excerpt

<h4>PURPOSE</h4> The terminology used for gene-disease curation and variant annotation to describe inheritance, allelic requirement, and both sequence and functional consequences of a variant is currently not standardized. There is considerable discrepancy in the literature and across clinical variant reporting in the derivation and application of terms. Here we standardize the terminology for the characterization...

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Literature Corpus work: 014e93fb-6d71-5ed0-9c05-235163b36fed
DOI: 10.1101/2023.03.30.23287948

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