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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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2012
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3549785/
https://ncbi.nlm.nih.gov/pubmed/23164068
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2043-9113-2-19
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