Mis-annotated multi nucleotide variants in public cancer genomics datasets can lead to inaccurate mutation calls with significant implications
Sujaya Srinivasan, Natallia Kalinava, Rafael Aldana, Zhipan Li, Sjoerd van Hagen, Sander Y.A. Rodenburg, Megan Wind‐Rotolo, Ariella Sasson, Hao Tang, Xiaozhong Qian, Stefan A. Kirov
The paper identifies mis-annotated multi-nucleotide variants (MNVs) in cancer genomics datasets, showing they lead to incorrect amino acid change predictions and recommends merging SNVs into MNVs for accurate variant annotation.
Cancer Research · Oct 28, 2020Peer-reviewedGenomics