Correct identification of actionable variants has always been the most challenging step in NGS pipeline. When building in-house pipeline, selection of adequate annotation databases is of highest importance, directly impacting validity and relevance of clinical and scientific interpretation of NGS data.
In this webinar we reveal content and use of manually curated annotation databases provided by QIAGEN, such as HGMD (standard reference for inherited disease causing and disease associated mutations), PGMD (comprehensive database of pharmacogenomics variants), and Genome Trax (combination of HGMD, PGMD, and over 20 additional databases). We also discuss different options of annotation tools, as ANNOVAR and CLC Workbenches that are compatible with these databases.
QIAGEN Bioinformatics product line
