Genome analysis and knowledge-driven variant interpretation with TGex
نویسندگان
چکیده
منابع مشابه
Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver
Interpretation of human genomes is a major challenge. We present the Scripps Genome ADVISER (SG-ADVISER) suite, which aims to fill the gap between data generation and genome interpretation by performing holistic, in-depth, annotations and functional predictions on all variant types and effects. The SG-ADVISER suite includes a de-identification tool, a variant annotation web-server, and a user i...
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ژورنال
عنوان ژورنال: BMC Medical Genomics
سال: 2019
ISSN: 1755-8794
DOI: 10.1186/s12920-019-0647-8