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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Dettagli Bibliografici
Pubblicato in:Eur J Hum Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer International Publishing 2019
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Article
Accesso online: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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