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Detecting false positive signals in exome sequencing

Disease gene discovery has been transformed by affordable sequencing of exomes and genomes. Identification of disease-causing mutations requires sifting through a large number of sequence variants. A subset of the variants are unlikely to be good candidates for disease causation based on one or more...

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Autores principales: Fajardo, Karin V Fuentes, Adams, David, Mason, Christopher E, Sincan, Murat, Tifft, Cynthia, Toro, Camilo, Boerkoel, Cornelius F, Gahl, William, Markello, Thomas
Formato: Artigo
Lenguaje:Inglês
Publicado: 2012
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3302978/
https://ncbi.nlm.nih.gov/pubmed/22294350
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22033
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