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ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants

Advances in high-throughput DNA sequencing have revolutionized the discovery of variants in the human genome; however, interpreting the phenotypic effects of those variants is still a challenge. While several computational approaches to predict variant impact are available, their accuracy is limited...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Alirezaie, Najmeh, Kernohan, Kristin D., Hartley, Taila, Majewski, Jacek, Hocking, Toby Dylan
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6174354/
https://ncbi.nlm.nih.gov/pubmed/30220433
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.08.005
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