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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Gepubliceerd in:Eur J Hum Genet
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer International Publishing 2019
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Article
Online toegang: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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