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MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains

The growing availability of human genetic variation has given rise to novel methods of measuring genetic tolerance that better interpret variants of unknown significance. We recently developed a concept based on protein domain homology in the human genome to improve variant interpretation. For this...

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Detalles Bibliográficos
Autores principales:	Wiel, Laurens, Baakman, Coos, Gilissen, Daan, Veltman, Joris A., Vriend, Gerrit, Gilissen, Christian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Informatics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6772141/ https://www.ncbi.nlm.nih.gov/pubmed/31116477 http://dx.doi.org/10.1002/humu.23798

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