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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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Detalhes bibliográficos
Publicado no:PLoS Comput Biol
Main Authors: Xavier, Alexandre, Scott, Rodney J., Talseth-Palmer, Bente A.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6814239/
https://ncbi.nlm.nih.gov/pubmed/31613886
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pcbi.1007453
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