Genetic Variations and Diseases in UniProtKB/Swiss-Prot: The Ins and Outs of Expert Manual Curation

During the last few years, next-generation sequencing (NGS) technologies have accelerated the detection of genetic variants resulting in the rapid discovery of new disease-associated genes. However, the wealth of variation data made available by NGS alone is not sufficient to understand the mechanis...

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Detalles Bibliográficos
Autores principales: Famiglietti, Maria Livia, Estreicher, Anne, Gos, Arnaud, Bolleman, Jerven, Géhant, Sébastien, Breuza, Lionel, Bridge, Alan, Poux, Sylvain, Redaschi, Nicole, Bougueleret, Lydie, Xenarios, Ioannis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Databases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4107114/
https://www.ncbi.nlm.nih.gov/pubmed/24848695
http://dx.doi.org/10.1002/humu.22594

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4107114/
https://www.ncbi.nlm.nih.gov/pubmed/24848695
http://dx.doi.org/10.1002/humu.22594

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