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MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants
The diffusion of next-generation sequencing technologies has revolutionized research and diagnosis in the field of rare Mendelian disorders, notably via whole-exome sequencing (WES). However, one of the main issues hampering achievement of a diagnosis via WES analyses is the extended list of variant...
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| Publicado no: | PLoS One |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7394404/ https://ncbi.nlm.nih.gov/pubmed/32735577 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0236962 |
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