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

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 repor...

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Detalles Bibliográficos
Autores principales: 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, van Sant, David, Stark, Zornitza, Whiffin, Nicola, Rehm, Heidi L., Ware, James S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10104222/
https://www.ncbi.nlm.nih.gov/pubmed/37066232
http://dx.doi.org/10.1101/2023.03.30.23287948

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