HDAM: a resource of human disease associated mutations from next generation sequencing studies

BACKGROUND: Next generation sequencing (NGS) technologies have greatly facilitated the rapid and economical detection of pathogenic mutations in human disorders. However, mutation descriptions are hard to be compared and integrated due to various reference sequences and annotation tools adopted in d...

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Detalles Bibliográficos
Autores principales: Jia, Meiwei, Liu, Yanli, Shen, Zhongchao, Zhao, Chen, Zhang, Meixia, Yi, Zhenghui, Wen, Chengping, Deng, Youping, Shi, Tieliu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3552701/
https://www.ncbi.nlm.nih.gov/pubmed/23369322
http://dx.doi.org/10.1186/1755-8794-6-S1-S16

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3552701/
https://www.ncbi.nlm.nih.gov/pubmed/23369322
http://dx.doi.org/10.1186/1755-8794-6-S1-S16

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