Ino de Bruijn, Xiang Li, Selcuk Onur Sumer, Benjamin Gross, Robert Sheridan, Angelica Ochoa, Manda Wilson, Avery Wang, Hongxin Zhang, Aaron Lisman, Adam Abeshouse, Emily Zhang, Alice Thum, Ananthan Sadagopan, Zachary Heins, Cyriac Kandoth, Sander Rodenburg, Sander Tan, Pieter Lukasse, Sjoerd van Hagen, Remond J A Fijneman, Gerrit A Meijer, Nikolaus Schultz, Jianjiong Gao
PURPOSE: Interpretation of genomic variants in tumor samples still presents a challenge in research and the clinical setting. A major issue is that information for variant interpretation is fragmented across disparate databases, and aggregation of information from these requires building extensive infrastructure. To this end, we have developed Genome Nexus, a one-stop shop for variant annotation with a user-friendly interface for cancer researchers and clinicians. METHODS: Genome Nexus (1) aggregates variant information from sources that are relevant to cancer research and clinical applications, (2) allows high-performance programmatic access to the aggregated data via a unified application programming interface, (3) provides a reference page for individual cancer variants, (4) provides user-friendly tools for annotating variants in patients, and (5) is freely available under an open source license and can be installed in a private cloud or local environment and integrated with local institutional resources...
February 2022: JCO Clinical Cancer Informatics