Achieving high-sensitivity for clinical applications using augmented exome sequencing

BACKGROUND: Whole exome sequencing is increasingly used for the clinical evaluation of genetic disease, yet the variation of coverage and sensitivity over medically relevant parts of the genome remains poorly understood. Several sequencing-based assays continue to provide coverage that is inadequate...

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Detalles Bibliográficos
Autores principales: Patwardhan, Anil, Harris, Jason, Leng, Nan, Bartha, Gabor, Church, Deanna M., Luo, Shujun, Haudenschild, Christian, Pratt, Mark, Zook, Justin, Salit, Marc, Tirch, Jeanie, Morra, Massimo, Chervitz, Stephen, Li, Ming, Clark, Michael, Garcia, Sarah, Chandratillake, Gemma, Kirk, Scott, Ashley, Euan, Snyder, Michael, Altman, Russ, Bustamante, Carlos, Butte, Atul J., West, John, Chen, Richard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4534066/
https://www.ncbi.nlm.nih.gov/pubmed/26269718
http://dx.doi.org/10.1186/s13073-015-0197-4

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