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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Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4534066/
https://ncbi.nlm.nih.gov/pubmed/26269718
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-015-0197-4
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