Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach

Clinical exome sequencing (CES) has become the preferred diagnostic platform for complex pediatric disorders with suspected monogenic etiologies. Despite rapid advancements, the major challenge still resides in identifying the casual variants among the thousands of variants detected during CES testi...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Wu, Chao, Devkota, Batsal, Evans, Perry, Zhao, Xiaonan, Baker, Samuel W., Niazi, Rojeen, Cao, Kajia, Gonzalez, Michael A., Jayaraman, Pushkala, Conlin, Laura K., Krock, Bryan L., Deardorff, Matthew A., Spinner, Nancy B., Krantz, Ian D., Santani, Avni B., Tayoun, Ahmad N. Abou, Sarmady, Mahdi
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6460638/
https://ncbi.nlm.nih.gov/pubmed/30626929
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0328-7
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