TAPES: A tool for assessment and prioritisation in exome studies

Next-generation sequencing continues to grow in importance for researchers. Exome sequencing became a widespread tool to further study the genomic basis of Mendelian diseases. In an effort to identify pathogenic variants, reject benign variants and better predict variant effects in downstream analys...

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Detalles Bibliográficos
Autores principales: Xavier, Alexandre, Scott, Rodney J., Talseth-Palmer, Bente A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814239/
https://www.ncbi.nlm.nih.gov/pubmed/31613886
http://dx.doi.org/10.1371/journal.pcbi.1007453

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814239/
https://www.ncbi.nlm.nih.gov/pubmed/31613886
http://dx.doi.org/10.1371/journal.pcbi.1007453

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