数据库名称：TIGEM Exome Mendelian Disorder Tool
数据库主要信息：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.).
Telethon Institute of Genetics and Medicine
Telethon Institute of Genetics and Medicine, Naples, Italy
Contact name (PI/Team):
Diego di Bernardo
Contact email (PI/Helpdesk):