GenomicsCancer ResearchPeer-reviewed
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…·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.
17 citations