Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Qingbo S. Wang, Emma Pierce‐Hoffman, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura Doyle Gauthier, Andrew J. Hill, Anne O’Donnell‐Luria, Genome Aggregation Database Production Team, Irina M. Armean, Eric Banks, Louis Bergelson, Kristian Cibulskis, Ryan L. Collins, Kristen M. Connolly, , George Kirov
The paper analyzes multi-nucleotide variants (MNVs) in 125,748 exomes and 15,708 genomes, identifying their distribution, mutational origins, and functional implications.
Nature Communications · May 27, 2020Peer-reviewedGenomics