EHR-Phenolyzer v1.0.1
:: DESCRIPTION
EHR-Phenolyzer is a python pipeline to automatically translate raw clinical notes into meaningfully ranked candidate causal genes. It might greatly shorten the time for disease causal genes identification and discovery.
::DEVELOPER
:: SCREENSHOTS
N/A
:: REQUIREMENTS
- Linux
- Python
:: DOWNLOAD
:: MORE INFORMATION
Citation
Son JH, Xie G, Yuan C, Ena L, Li Z, Goldstein A, Huang L, Wang L, Shen F, Liu H, Mehl K, Groopman EE, Marasa M, Kiryluk K, Gharavi AG, Chung WK, Hripcsak G, Friedman C, Weng C, Wang K.
Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.
Am J Hum Genet. 2018 Jul 5;103(1):58-73. doi: 10.1016/j.ajhg.2018.05.010. Epub 2018 Jun 28. PMID: 29961570; PMCID: PMC6035281.