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SeqMule: automated pipeline for analysis of human exome/genome sequencing data

Next-generation sequencing (NGS) technology has greatly helped us identify disease-contributory variants for Mendelian diseases. However, users are often faced with issues such as software compatibility, complicated configuration, and no access to high-performance computing facility. Discrepancies e...

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Detalles Bibliográficos
Autores principales: Guo, Yunfei, Ding, Xiaolei, Shen, Yufeng, Lyon, Gholson J., Wang, Kai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4585643/
https://www.ncbi.nlm.nih.gov/pubmed/26381817
http://dx.doi.org/10.1038/srep14283