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Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection

BACKGROUND: Next generation sequencing provides clinical research scientists with direct read out of innumerable variants, including personal, pathological and common benign variants. The aim of resequencing studies is to determine the candidate pathogenic variants from individual genomes, or from f...

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Detalles Bibliográficos
Autores principales: Stubbs, Andrew, McClellan, Elizabeth A, Horsman, Sebastiaan, Hiltemann, Saskia D, Palli, Ivo, Nouwens, Stephan, Koning, Anton HJ, Hoogland, Frits, Reumers, Joke, Heijsman, Daphne, Swagemakers, Sigrid, Kremer, Andreas, Meijerink, Jules, Lambrechts, Diether, van der Spek, Peter J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3549785/
https://www.ncbi.nlm.nih.gov/pubmed/23164068
http://dx.doi.org/10.1186/2043-9113-2-19