TIGEM Exome Mendelian Disorder Tool
收藏国家生物信息中心2025-10-11 更新2025-03-15 收录
下载链接：
http://exome.tigem.it
下载链接
链接失效反馈官方服务：
资源简介：
The TIGEM Exome Mendelian Disorder Tool is a resource to annotate and analyze whole exome-sequencing data from patients. The underlying pipeline automates the analysis workflow (quality control and read trimming, mapping on reference genome, post-alignment processing, variation calling and annotation) using state-of-the-art software tools. The results are annotated with allele frequencies stratified by Mendelian disorder calculated by the samples progressively collected in the database, as long as the standard variant annotation (e.g. allele frequency in the general population, the predicted effect on gene product activity, etc.).
提供机构：
Telethon Institute of Genetics and Medicine
创建时间：
2018-01-27
