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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
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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 |
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