APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP

The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) framework for classifying variants uses six evidence categories related to the splicing potential of variants: PVS1 (null variant in a gene where loss-of-function is the mechanism of diseas...

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Detalles Bibliográficos
Autores principales: Walker, Logan C., de la Hoya, Miguel, Wiggins, George A.R., Lindy, Amanda, Vincent, Lisa M., Parsons, Michael T, Canson, Daffodil M, Bis-Brewer, Dana, Cass, Ashley, Tchourbanov, Alexander, Zimmermann, Heather, Byrne, Alicia B, Pesaran, Tina, Karam, Rachid, Harrison, Steven, Spurdle, Amanda B
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/PMC9980257/
https://www.ncbi.nlm.nih.gov/pubmed/36865205
http://dx.doi.org/10.1101/2023.02.24.23286431

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