Protein domains provide a new layer of information for classifying human variations in rare diseases

Introduction: Using the ACMG-AMP guidelines for the interpretation of sequence variants, it remains difficult to meet the criterion associated with the protein domain, PM1, which is assigned in only about 10% of cases, whereas the criteria related to variant frequency, PM2/BA1/BS1, is reported in 50...

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Detalles Bibliográficos
Autores principales: Corcuff, Mélanie, Garibal, Marc, Desvignes, Jean-Pierre, Guien, Céline, Grattepanche, Coralie, Collod-Béroud, Gwenaëlle, Ménoret, Estelle, Salgado, David, Béroud, Christophe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Bioinformatics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9990413/
https://www.ncbi.nlm.nih.gov/pubmed/36896423
http://dx.doi.org/10.3389/fbinf.2023.1127341

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9990413/
https://www.ncbi.nlm.nih.gov/pubmed/36896423
http://dx.doi.org/10.3389/fbinf.2023.1127341

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