Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

PURPOSE: Guidelines by professional organizations for assessing variant pathogenicity include the recommendation to utilize biologically relevant transcripts, however there is variability in transcript selection by laboratories. METHODS: We describe three patients whose genomic results were incorrec...

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Detalles Bibliográficos
Autores principales: Schoch, Kelly, Tan, Queenie K.-G., Stong, Nicholas, Deak, Kristen L., McConkie-Rosell, Allyn, McDonald, Marie T., Goldstein, David B., Jiang, Yong-hui, Shashi, Vandana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335342/
https://www.ncbi.nlm.nih.gov/pubmed/32366967
http://dx.doi.org/10.1038/s41436-020-0781-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335342/
https://www.ncbi.nlm.nih.gov/pubmed/32366967
http://dx.doi.org/10.1038/s41436-020-0781-x

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