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dbNSFP: A Lightweight Database of Human Nonsynonymous SNPs and Their Functional Predictions
With the advance of sequencing technologies, whole exome sequencing has increasingly been used to identify mutations that cause human diseases, especially rare Mendelian diseases. Among the analysis steps, functional prediction (of being deleterious) plays an important role in filtering or prioritiz...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wiley Subscription Services, Inc., A Wiley Company
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3145015/ https://www.ncbi.nlm.nih.gov/pubmed/21520341 http://dx.doi.org/10.1002/humu.21517 |