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Exome-assistant: a rapid and easy detection of disease-related genes and genetic variations from exome sequencing

BACKGROUND: Protein-coding regions in human genes harbor 85% of the mutations that are associated with disease-related traits. Compared with whole-genome sequencing of complex samples, exome sequencing serves as an alternative option because of its dramatically reduced cost. In fact, exome sequencin...

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Detalles Bibliográficos
Autores principales: Liu, Qi, Shen, Enjian, Min, Qingjie, Li, Xueying, Wang, Xin, Li, Xianfeng, Sun, Zhong Sheng, Wu, Jinyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3539923/
https://www.ncbi.nlm.nih.gov/pubmed/23231371
http://dx.doi.org/10.1186/1471-2164-13-692