Article
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2024
Roberts Angharad M, DiStefano Marina T, Riggs Erin Rooney, Josephs Katherine S, Alkuraya Fowzan S, Amberger Joanna, Amin Mutaz, Berg Jonathan S, Cunningham Fiona, Eilbeck Karen, Firth Helen V, Foreman Julia, Hamosh Ada, Hay Eleanor, Leigh Sarah, Martin Christa L, McDonagh Ellen M, Perrett Daniel, Ramos Erin M, Robinson Peter N, Rath Ana, Sant David W, Stark Zornitza, Whiffin Nicola, Rehm Heidi L, Ware James S
Abstract excerpt
PURPOSE: 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 of...
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