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The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors

Next Generation Sequencing studies generate a large quantity of genetic data in a relatively cost and time efficient manner and provide an unprecedented opportunity to identify candidate causative variants that lead to disease phenotypes. A challenge to these studies is the generation of sequencing...

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Detalles Bibliográficos
Autores principales: Patel, Zubin H., Kottyan, Leah C., Lazaro, Sara, Williams, Marc S., Ledbetter, David H., Tromp, hbGerard, Rupert, Andrew, Kohram, Mojtaba, Wagner, Michael, Husami, Ammar, Qian, Yaping, Valencia, C. Alexander, Zhang, Kejian, Hostetter, Margaret K., Harley, John B., Kaufman, Kenneth M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3921572/
https://www.ncbi.nlm.nih.gov/pubmed/24575121
http://dx.doi.org/10.3389/fgene.2014.00016